{"id":76,"date":"2021-03-22T19:51:36","date_gmt":"2021-03-22T19:51:36","guid":{"rendered":"https:\/\/mewigen.de\/?page_id=76"},"modified":"2023-07-12T12:37:01","modified_gmt":"2023-07-12T12:37:01","slug":"genelist","status":"publish","type":"page","link":"https:\/\/mewigen.de\/index.php\/genelist\/","title":{"rendered":"Sanger Sequencing Service"},"content":{"rendered":"\t\t
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MEWIGEN gene list<\/h4>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t
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Please find our complete genetic analysis service list below<\/h5>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t
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Gene list<\/h1>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t
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Search by:<\/h4>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t
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\n\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\t\t\tDisease<\/span>\n\t\t\t\t\t<\/span>\n\t\t\t\t\t<\/a>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t
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\n\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\t\t\tGene<\/span>\n\t\t\t\t\t<\/span>\n\t\t\t\t\t<\/a>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t
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\n \n \n \n \n \n \n \n \n \n \n \n <\/colgroup>\n \n\n \n\n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n \n
Disease<\/th>Acronym<\/th>Disease-OMIM<\/th>Gene<\/th>Gene Synonym<\/th>Gene-OMIM<\/th>Method<\/th>Filter 1 A-Z<\/th>Filter 2 Group<\/th><\/tr>\n<\/thead>\n
ABCD syndrome<\/td>ABCDS, albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness<\/td>600501<\/td>EDNRB<\/td><\/td>131244<\/td>SEQ, MLPA, NGS<\/td>A<\/td>Syndro<\/td> <\/tr>\n
Abetalipoproteinemia<\/td>Acanthocytosis, Bassen-Kornzweig-syndrome<\/td>200100<\/td>MTTP<\/td>MTP<\/td>157147<\/td>SEQ, NGS<\/td>A<\/td>Neuro<\/td> <\/tr>\n
Achondrogenesis type 2<\/td>ACG2<\/td>200610<\/td>COL2A1<\/td><\/td>120140<\/td>SEQ, MLPA, NGS<\/td>A<\/td>Tissue<\/td> <\/tr>\n
Achondroplasia<\/td>ACH<\/td>100800<\/td>FGFR3<\/td><\/td>134934<\/td>SEQ, MLPA, NGS<\/td>A<\/td>Tissue<\/td> <\/tr>\n
Acro-dermato-ungual-lacrimal-tooth syndrome<\/td>ADULT syndrome<\/td>103285<\/td>TP63<\/td>p63, TP73L<\/td>603273<\/td>SEQ, NGS<\/td>A<\/td>Syndro<\/td> <\/tr>\n
Acrodysostosis type 1, with or without hormone resistance<\/td>ACRDYS1<\/td>101800<\/td>PRKAR1A<\/td><\/td>188830<\/td>SEQ, MLPA, NGS<\/td>A<\/td>Tissue<\/td> <\/tr>\n
Acrodysostosis type 2, with or without hormone resistance<\/td>ACRDYS2<\/td>614613<\/td>PDE4D<\/td><\/td>600129<\/td>SEQ, NGS<\/td>A<\/td>Tissue<\/td> <\/tr>\n
Acromesomelic dysplasia, Hunter-Thompson type<\/td>AMDH<\/td>201250<\/td>GDF5<\/td><\/td>601146<\/td>SEQ, NGS<\/td>A<\/td>Tissue<\/td> <\/tr>\n
ACTH-independent macronodular adrenal hyperplasia<\/td>AIMAH1<\/td>219080<\/td>GNAS somatic mutations<\/td><\/td>139320<\/td>SEQ, MLPA, NGS<\/td>A<\/td>Kidney<\/td> <\/tr>\n
ACTH-independent macronodular adrenal hyperplasia<\/td>AIMAH1<\/td>219080<\/td>GNAS somatic mutations<\/td><\/td>139320<\/td>SEQ, MLPA, NGS<\/td>A<\/td>Tumor<\/td> <\/tr>\n
Adenosine triphosphate, elevated, of erythrocytes<\/td>pyruvate kinase hyperactivity<\/td>102900<\/td>PKLR<\/td><\/td>609712<\/td>SEQ, MLPA, NGS<\/td>A<\/td>Meta<\/td> <\/tr>\n
Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency<\/td><\/td>201910<\/td>CYP21A2<\/td><\/td>613815<\/td>SEQ, MLPA, NGS<\/td>A<\/td>Meta<\/td> <\/tr>\n
Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency<\/td>3-beta-HSD deficiency, HSDB<\/td>201810<\/td>HSD3B2<\/td><\/td>613890<\/td>SEQ, NGS<\/td>A<\/td>Meta<\/td> <\/tr>\n
AEC syndrome, Hay-Wells syndrome<\/td><\/td>106260<\/td>TP63<\/td>p63, TP73L<\/td>603273<\/td>SEQ, NGS<\/td>A<\/td>Syndro<\/td> <\/tr>\n
Age-related macular degeneration 4<\/td>ARMD4<\/td>610698<\/td>CFH p.Y402H<\/td>HF<\/td>134370<\/td>SEQ<\/td>A<\/td>Sensory<\/td> <\/tr>\n
Age-related macular degeneration 8<\/td>ARMD8<\/td>613778<\/td>ARMS2 p.A69S<\/td>LOC387715<\/td>611313<\/td>SEQ<\/td>A<\/td>Sensory<\/td> <\/tr>\n
Aicardi-Goutieres syndrome type 1<\/td>AGS1<\/td>225750<\/td>TREX1<\/td><\/td>606609<\/td>SEQ, MLPA, NGS<\/td>A<\/td>Syndro<\/td> <\/tr>\n
Aicardi-Goutieres syndrome type 5<\/td>AGS5<\/td>612952<\/td>SAMHD1<\/td><\/td>606754<\/td>SEQ, MLPA, NGS<\/td>A<\/td>Syndro<\/td> <\/tr>\n
Albinism, oculocutaneous, type 1A<\/td>OCA1A, tyrosinase-negative OCA1<\/td>203100<\/td>TYR null mutation<\/td><\/td>606933<\/td>SEQ, MLPA, NGS<\/td>A<\/td>Meta<\/td> <\/tr>\n
Albinism, oculocutaneous, type 1B<\/td>OCA1B, tyrosinase-positive OCA1<\/td>606952<\/td>TYR hypomorphic mutation<\/td><\/td>606933<\/td>SEQ, MLPA, NGS<\/td>A<\/td>Meta<\/td> <\/tr>\n
Albinism, oculocutaneous, type 2<\/td>OCA2<\/td>203200<\/td>OCA2<\/td>P gene, pink-eyed dilution<\/td>611409<\/td>SEQ, MLPA, NGS<\/td>A<\/td>Meta<\/td> <\/tr>\n
Albinism, oculocutaneous, type 3<\/td>OCA3<\/td>203290<\/td>TYRP1<\/td><\/td>115501<\/td>SEQ, NGS<\/td>A<\/td>Meta<\/td> <\/tr>\n
Albinism, oculocutaneous, type 4<\/td>OCA4<\/td>606574<\/td>SLC45A2<\/td>MATP<\/td>606202<\/td>SEQ, NGS<\/td>A<\/td>Meta<\/td> <\/tr>\n
Albinism, oculocutaneous, type 6<\/td>OCA6<\/td>113750<\/td>SLC24A5<\/td><\/td>609802<\/td>SEQ, NGS<\/td>A<\/td>Meta<\/td> <\/tr>\n
Albinism, oculocutaneous, type 7<\/td>OCA7<\/td>615179<\/td>C10ORF11<\/td><\/td>614537<\/td>SEQ, NGS<\/td>A<\/td>Meta<\/td> <\/tr>\n
Albright hereditary osteodystrophy, Pseudohypoparathyroidism type Ia<\/td>PHP1A<\/td>103580<\/td>GNAS<\/td><\/td>139320<\/td>SEQ, MLPA, NGS<\/td>A<\/td>Tissue<\/td> <\/tr>\n
Alexander disease<\/td><\/td>203450<\/td>GFAP<\/td><\/td>137780<\/td>SEQ, NGS<\/td>A<\/td>Neuro<\/td> <\/tr>\n
Alpha-1-antitrypsin deficiency<\/td>A1ATD<\/td>613490<\/td>SERPINA1, exons 3 and 5<\/td><\/td>107400<\/td>SEQ, MLPA<\/td>A<\/td>Meta<\/td> <\/tr>\n
Alpha-thalassemia\/mental retardation syndrome, X-linked<\/td>ATRX<\/td>301040<\/td>ATRX<\/td><\/td>300032<\/td>SEQ, MLPA, NGS<\/td>A<\/td>Syndro<\/td> <\/tr>\n
Alport syndrome 1, X-linked<\/td>ATS1<\/td>301050<\/td>COL4A5<\/td><\/td>303630<\/td>SEQ, MLPA, NGS<\/td>A<\/td>Kidney<\/td> <\/tr>\n
Alport syndrome 1, X-linked<\/td>ATS1<\/td>301050<\/td>COL4A5<\/td><\/td>303630<\/td>SEQ, MLPA, NGS<\/td>A<\/td>Syndro<\/td> <\/tr>\n
Alport syndrome 2, autosomal recessive<\/td>ATS2<\/td>203780<\/td>COL4A3<\/td><\/td>120070<\/td>SEQ, MLPA, NGS<\/td>A<\/td>Kidney<\/td> <\/tr>\n
Alport syndrome 2, autosomal recessive<\/td>ATS2<\/td>203780<\/td>COL4A4<\/td><\/td>120131<\/td>SEQ, MLPA, NGS<\/td>A<\/td>Syndro<\/td> <\/tr>\n
Alport syndrome 3, autosomal dominant<\/td>ATS3<\/td>104200<\/td>COL4A3<\/td><\/td>120070<\/td>SEQ, MLPA, NGS<\/td>A<\/td>Kidney<\/td> <\/tr>\n
Alport syndrome 3, autosomal dominant<\/td>ATS3<\/td>104200<\/td>COL4A3<\/td><\/td>120070<\/td>SEQ, MLPA, NGS<\/td>A<\/td>Syndro<\/td> <\/tr>\n
Alternating hemiplegia of childhood 1<\/td>AHC1<\/td>104290<\/td>ATP1A2<\/td><\/td>182340<\/td>SEQ, MLPA, NGS<\/td>A<\/td>Neuro<\/td> <\/tr>\n
Alternating hemiplegia of childhood 2<\/td>AHC2<\/td>614820<\/td>ATP1A3<\/td><\/td>182350<\/td>SEQ, MLPA, NGS<\/td>A<\/td>Neuro<\/td> <\/tr>\n
Alzheimer disease type 1, familial<\/td>AD<\/td>104300<\/td>APP<\/td><\/td>104760<\/td>SEQ, MLPA, NGS<\/td>A<\/td>Neuro<\/td> <\/tr>\n
Alzheimer disease type 2, familial<\/td>AD2<\/td>104310<\/td>APOE E2\/E3\/E4-Allele<\/td><\/td>107741<\/td>SEQ<\/td>A<\/td>Neuro<\/td> <\/tr>\n
Alzheimer disease type 3, familial<\/td>DAT<\/td>607822<\/td>PSEN1<\/td><\/td>104311<\/td>SEQ, MLPA, NGS<\/td>A<\/td>Neuro<\/td> <\/tr>\n
Alzheimer disease type 4, familial<\/td>DAT<\/td>606889<\/td>PSEN2<\/td><\/td>600759<\/td>SEQ, MLPA, NGS<\/td>A<\/td>Neuro<\/td> <\/tr>\n
AMP deaminase deficiency<\/td>Myoadenylat deaminase deficiency<\/td>615511<\/td>AMPD1<\/td><\/td>102770<\/td>SEQ, NGS<\/td>A<\/td>Neuro<\/td> <\/tr>\n
Amyloidosis, hereditary, transthyretin-related<\/td>Amyloid polyneuropathy<\/td>105210<\/td>TTR<\/td><\/td>176300<\/td>SEQ, NGS<\/td>A<\/td>Meta<\/td> <\/tr>\n
Amyotrophic lateral sclerosis type 1<\/td>ALS1<\/td>105400<\/td>SOD1<\/td><\/td>147450<\/td>SEQ, NGS<\/td>A<\/td>Neuro<\/td> <\/tr>\n
Amyotrophic lateral sclerosis type 10<\/td>ALS10<\/td>612069<\/td>TARDBP<\/td>TDP43<\/td>605078<\/td>SEQ, NGS<\/td>A<\/td>Neuro<\/td> <\/tr>\n
Amyotrophic lateral sclerosis type 11<\/td>ALS11<\/td>612577<\/td>FIG4<\/td><\/td>609390<\/td>SEQ, NGS<\/td>A<\/td>Neuro<\/td> <\/tr>\n
Amyotrophic lateral sclerosis type 14, with or without frontotemporal dementia<\/td>ALS14<\/td>613954<\/td>VCP<\/td><\/td>601023<\/td>SEQ, NGS<\/td>A<\/td>Neuro<\/td> <\/tr>\n
Amyotrophic lateral sclerosis type 2, juvenile<\/td>ALS2<\/td>205100<\/td>ALS2<\/td>KIAA1563<\/td>606352<\/td>SEQ, NGS<\/td>A<\/td>Neuro<\/td> <\/tr>\n
Amyotrophic lateral sclerosis type 4, juvenile<\/td>ALS4<\/td>602433<\/td>SETX<\/td><\/td>608465<\/td>SEQ, MLPA, NGS<\/td>A<\/td>Neuro<\/td> <\/tr>\n
Amyotrophic lateral sclerosis type 6, with or without frontotemporal dementia<\/td>ALS6<\/td>608030<\/td>FUS<\/td><\/td>137070<\/td>SEQ, NGS<\/td>A<\/td>Neuro<\/td> <\/tr>\n
Amyotrophic lateral sclerosis type 8<\/td>ALS8<\/td>608627<\/td>VAPB<\/td><\/td>605704<\/td>SEQ, NGS<\/td>A<\/td>Neuro<\/td> <\/tr>\n
Amyotrophic lateral sclerosis type 9<\/td>ALS9<\/td>611895<\/td>ANG<\/td><\/td>105850<\/td>SEQ, NGS<\/td>A<\/td>Neuro<\/td> <\/tr>\n
Andersen-Tawil syndrome<\/td>ATS, LQT7, periodic paralysis + ventricular arrhythmias + distinctive dysmorphic facial or skeletal features<\/td>170390<\/td>KCNJ2<\/td><\/td>600681<\/td>SEQ, MLPA, NGS<\/td>A<\/td>Cardio<\/td> <\/tr>\n
Androgen insensitivity<\/td>AIS<\/td>300068<\/td>AR<\/td><\/td>313700<\/td>SEQ, MLPA, NGS<\/td>A<\/td>Meta<\/td> <\/tr>\n
Androgen insensitivity, partial, with or without breast cancer<\/td>PAIS<\/td>312300<\/td>AR<\/td><\/td>313700<\/td>SEQ, MLPA, NGS<\/td>A<\/td>Meta<\/td> <\/tr>\n
Angioedema, hereditary, type III<\/td>HAE3<\/td>610618<\/td>F12<\/td><\/td>610619<\/td>SEQ, MLPA, NGS<\/td>A<\/td>Meta<\/td> <\/tr>\n
Angioedema, hereditary, types I and II<\/td>HAE1, HAE2<\/td>106100<\/td>SERPING1<\/td>C1NH<\/td>606860<\/td>SEQ, MLPA, NGS<\/td>A<\/td>Meta<\/td> <\/tr>\n
Aniridia<\/td>AN1, congenital cataract with late-onset corneal-dystrophy<\/td>106210<\/td>PAX6<\/td><\/td>607108<\/td>SEQ, MLPA, NGS<\/td>A<\/td>Sensory<\/td> <\/tr>\n
Anophthalmia \/ Microphthalmia, syndromic<\/td>SOX2-related eye disorders<\/td>206900<\/td>SOX2<\/td><\/td>184429<\/td>SEQ, MLPA, NGS<\/td>A<\/td>Syndro<\/td> <\/tr>\n
Anterior segment dysgenesis, type 3<\/td>ASGD3<\/td>601631<\/td>FOXC1<\/td><\/td>601090<\/td>SEQ, MLPA, NGS<\/td>A<\/td>Sensory<\/td> <\/tr>\n
Anterior segment dysgenesis, type 4<\/td>ASGD4<\/td>137600<\/td>PITX2<\/td><\/td>601542<\/td>SEQ, MLPA, NGS<\/td>A<\/td>Sensory<\/td> <\/tr>\n
Anterior segment dysgenesis, type 5<\/td>ASGD5<\/td>604229<\/td>PAX6<\/td><\/td>607108<\/td>SEQ, MLPA, NGS<\/td>A<\/td>Sensory<\/td> <\/tr>\n
Apert syndrome<\/td>Acrocephalosyndactyly type 1<\/td>101200<\/td>FGFR2<\/td><\/td>176943<\/td>SEQ, MLPA, NGS<\/td>A<\/td>Syndro<\/td> <\/tr>\n
Aphasia, primary progressive<\/td>PPA<\/td>607485<\/td>GRN<\/td>PGRN<\/td>138945<\/td>SEQ, MLPA, NGS<\/td>A<\/td>Neuro<\/td> <\/tr>\n
Apolipoprotein B100, familial ligand-defective<\/td>Hypercholesterolemia, familial, 2, FCHL2<\/td>144010<\/td>APOB p.R3527Q [R3500Q], p.R3558C [R3531C]<\/td><\/td>107730<\/td>SEQ<\/td>A<\/td>Meta<\/td> <\/tr>\n
Argininemia<\/td>Arginase deficiency<\/td>207800<\/td>ARG1<\/td><\/td>608313<\/td>SEQ, NGS<\/td>A<\/td>Meta<\/td> <\/tr>\n
Argininemia<\/td>Arginase deficiency<\/td>207800<\/td>ARG1<\/td><\/td>608313<\/td>SEQ, NGS<\/td>A<\/td>Path<\/td> <\/tr>\n
Argininosuccinase deficiency<\/td>Argininosuccinic aciduria<\/td>207900<\/td>ASL<\/td><\/td>608310<\/td>SEQ, NGS<\/td>A<\/td>Path<\/td> <\/tr>\n
Argininosuccinase deficiency<\/td>Argininosuccinic aciduria<\/td>207900<\/td>ASL<\/td><\/td>608310<\/td>SEQ, NGS<\/td>A<\/td>Meta<\/td> <\/tr>\n
Aromatic L-amino acid decarboxylase deficiency<\/td>AADCD, dopa decarboxylase deficiency<\/td>608643<\/td>DDC<\/td>AADC<\/td>107930<\/td>SEQ, NGS<\/td>A<\/td>Neuro<\/td> <\/tr>\n
Arthrogryposis multiplex congenita, distal type 1<\/td>AMCD1<\/td>108120<\/td>TPM2<\/td><\/td>190990<\/td>SEQ, NGS<\/td>A<\/td>Syndro<\/td> <\/tr>\n
Arts syndrome<\/td>ARTS<\/td>301835<\/td>PRPS1<\/td><\/td>311850<\/td>SEQ, NGS<\/td>A<\/td>Syndro<\/td> <\/tr>\n
Association with statin-induced side effects<\/td><\/td><\/td>SLCO1B1*5 Genetic Variant<\/td>c.521T>C, p.V174A<\/td>604843<\/td>SEQ<\/td>A<\/td>Pharma<\/td> <\/tr>\n
Ataxia teleangiectasia<\/td>Louis-Bar-syndrome<\/td>208900<\/td>ATM<\/td><\/td>607585<\/td>SEQ, MLPA, NGS<\/td>A<\/td>Neuro<\/td> <\/tr>\n
Ataxia teleangiectasia<\/td>Louis-Bar syndrome<\/td>208900<\/td>ATM<\/td><\/td>607585<\/td>SEQ, MLPA, NGS<\/td>A<\/td>Tumor<\/td> <\/tr>\n
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia<\/td>AOA1<\/td>208920<\/td>APTX<\/td><\/td>606350<\/td>SEQ, MLPA, NGS<\/td>A<\/td>Neuro<\/td> <\/tr>\n
Atrial fibrillation, familial, 4<\/td>ATFB4<\/td>611493<\/td>KCNE2<\/td><\/td>603796<\/td>SEQ, MLPA, NGS<\/td>A<\/td>Cardio<\/td> <\/tr>\n
Attenuated familial adenomatous polyposis<\/td>AFAP<\/td>175100<\/td>APC<\/td><\/td>611731<\/td>SEQ, MLPA, NGS<\/td>A<\/td>Tumor<\/td> <\/tr>\n
Attenuated familial adenomatous polyposis<\/td>AFAP<\/td>175100<\/td>MUTYH<\/td><\/td>604933<\/td>SEQ, MLPA, NGS<\/td>A<\/td>Tumor<\/td> <\/tr>\n
Atypical Gaucher disease due to saposin C deficiency<\/td><\/td>610539<\/td>PSAP<\/td><\/td>176801<\/td>SEQ, NGS<\/td>A<\/td>Meta<\/td> <\/tr>\n
Atypical Krabbe disease due to saposin A deficiency<\/td>Saposin A deficiency<\/td>611722<\/td>PSAP<\/td><\/td>176801<\/td>SEQ, NGS<\/td>A<\/td>Meta<\/td> <\/tr>\n
Axenfeld-Rieger syndrome type 1<\/td>RIEG1<\/td>180500<\/td>PITX2<\/td><\/td>601542<\/td>SEQ, MLPA, NGS<\/td>A<\/td>Sensory<\/td> <\/tr>\n
Axenfeld-Rieger syndrome type 3<\/td>RIEG3<\/td>602482<\/td>FOXC1<\/td><\/td>601090<\/td>SEQ, MLPA, NGS<\/td>A<\/td>Sensory<\/td> <\/tr>\n
Bannayan-Riley-Ruvalcaba syndrome<\/td>BBRS<\/td>158350<\/td>PTEN<\/td><\/td>601728<\/td>SEQ, MLPA, NGS<\/td>B<\/td>Tumor<\/td> <\/tr>\n
Basal cell nevus syndrome<\/td>BCNS, Gorlin-Goltz syndrome<\/td>109400<\/td>PTCH1<\/td><\/td>601309<\/td>SEQ, MLPA, NGS<\/td>B<\/td>Tumor<\/td> <\/tr>\n
Basal cell nevus syndrome<\/td>BCNS, Gorlin-Goltz syndrome<\/td>109400<\/td>PTCH2<\/td><\/td>603673<\/td>SEQ, NGS<\/td>B<\/td>Tumor<\/td> <\/tr>\n
Basal cell nevus syndrome<\/td>BCNS, Gorlin-Goltz syndrome<\/td>109400<\/td>SUFU<\/td><\/td>607035<\/td>SEQ, MLPA, NGS<\/td>B<\/td>Tumor<\/td> <\/tr>\n
Basal ganglia calcification, idiopathic, 7, autosomal recessive<\/td>IBGC7<\/td>618317<\/td>MYORG<\/td><\/td>618255<\/td>SEQ, NGS<\/td>B<\/td>Neuro<\/td> <\/tr>\n
Basal ganglia calcification, idiopathic, type 1, Fahr disease<\/td>IBGC1<\/td>213600<\/td>SLC20A2<\/td><\/td>158378<\/td>SEQ, NGS<\/td>B<\/td>Neuro<\/td> <\/tr>\n
Basal ganglia calcification, idiopathic, type 4, Fahr disease<\/td>IBGC4<\/td>615007<\/td>PDGFRB<\/td><\/td>173410<\/td>SEQ, NGS<\/td>B<\/td>Neuro<\/td> <\/tr>\n
Basal ganglia calcification, idiopathic, type 5, Fahr disease<\/td>IBGC5<\/td>615483<\/td>PDGFB<\/td><\/td>190040<\/td>SEQ, NGS<\/td>B<\/td>Neuro<\/td> <\/tr>\n
Basal ganglia calcification, idiopathic, type 6, Fahr disease<\/td>IBGC6<\/td>616413<\/td>XPR1<\/td><\/td>605237<\/td>SEQ, NGS<\/td>B<\/td>Neuro<\/td> <\/tr>\n
Beare-Stevenson syndrome<\/td>BSTVS<\/td>123790<\/td>FGFR2<\/td><\/td>176943<\/td>SEQ, MLPA, NGS<\/td>B<\/td>Syndro<\/td> <\/tr>\n
Becker muscular dystrophy<\/td>BMD<\/td>300376<\/td>DMD<\/td><\/td>300377<\/td>SEQ, MLPA, NGS<\/td>B<\/td>Neuro<\/td> <\/tr>\n
Beckwith-Wiedemann syndrome<\/td>BWS<\/td>130650<\/td>CDKN1C<\/td>KIP2<\/td>600856<\/td>SEQ, MLPA, NGS<\/td>B<\/td>Syndro<\/td> <\/tr>\n
Benign familial infantile seizures, type 2<\/td>BFIE2<\/td>605751<\/td>PRRT2<\/td><\/td>614386<\/td>SEQ, MLPA, NGS<\/td>B<\/td>Epi<\/td> <\/tr>\n
Benign hereditary Chorea<\/td>BHC<\/td>118700<\/td>NKX2-1<\/td><\/td>600635<\/td>SEQ, MLPA, NGS<\/td>B<\/td>Neuro<\/td> <\/tr>\n
Bestrophinopathy, autosomal recessive<\/td>ARB<\/td>611809<\/td>BEST1<\/td><\/td>607854<\/td>SEQ, MLPA, NGS<\/td>B<\/td>Sensory<\/td> <\/tr>\n
Bietti crystalline corneoretinal dystrophy<\/td>BCD<\/td>210370<\/td>CYP4V2<\/td><\/td>608614<\/td>SEQ, NGS<\/td>B<\/td>Sensory<\/td> <\/tr>\n
Birt-Hogg-Dub\u00e9 syndrome<\/td>BHD<\/td>135150<\/td>FLCN<\/td><\/td>607273<\/td>SEQ, MLPA, NGS<\/td>B<\/td>Neuro<\/td> <\/tr>\n
Blepharophimosis, epicanthus inversus, and ptosis type 1 and 2<\/td>BPES<\/td>110100<\/td>FOXL2<\/td><\/td>605597<\/td>SEQ, MLPA, NGS<\/td>B<\/td>Syndro<\/td> <\/tr>\n
Blood group-Lutheran inhibitor, dominant LU(a-b-) phenotype<\/td>INLU<\/td>111150<\/td>KLF1<\/td><\/td>600599<\/td>SEQ, NGS<\/td>B<\/td>Coagul<\/td> <\/tr>\n
Borjeson-Forssman-Lehmann syndrome<\/td>BFLS<\/td>301900<\/td>PHF6<\/td><\/td>300414<\/td>SEQ, MLPA, NGS<\/td>B<\/td>Syndro<\/td> <\/tr>\n
Boucher-Neuhauser-syndrome<\/td>BNHS<\/td>215470<\/td>PNPLA6<\/td><\/td>603197<\/td>SEQ, NGS<\/td>B<\/td>Neuro<\/td> <\/tr>\n
Brachydactyly, type A1<\/td>Farabee brachydactyly<\/td>112500<\/td>IHH<\/td><\/td>600726<\/td>SEQ, NGS<\/td>B<\/td>Tissue<\/td> <\/tr>\n
Brachydactyly, type C<\/td>BDC, Haws type<\/td>113100<\/td>GDF5<\/td><\/td>601146<\/td>SEQ, NGS<\/td>B<\/td>Tissue<\/td> <\/tr>\n
Brachydactyly, type D<\/td>BDD<\/td>113200<\/td>HOXD13<\/td><\/td>142989<\/td>SEQ, MLPA, NGS<\/td>B<\/td>Tissue<\/td> <\/tr>\n
Brachydactyly, type E<\/td>BDE1<\/td>113300<\/td>HOXD13<\/td><\/td>142989<\/td>SEQ, MLPA, NGS<\/td>B<\/td>Tissue<\/td> <\/tr>\n
Brachydactyly, type E2<\/td>BDE2<\/td>613382<\/td>PTHLH<\/td><\/td>168470<\/td>SEQ, NGS<\/td>B<\/td>Tissue<\/td> <\/tr>\n
Brachydactyly-syndactyly syndrome<\/td>Zhao type, BDSD<\/td>610713<\/td>HOXD13<\/td><\/td>142989<\/td>SEQ, MLPA, NGS<\/td>B<\/td>Tissue<\/td> <\/tr>\n
Brachyolmia type 3<\/td><\/td>113500<\/td>TRPV4<\/td><\/td>605427<\/td>SEQ, NGS<\/td>B<\/td>Tissue<\/td> <\/tr>\n
Breast cancer, susceptibility<\/td><\/td>114480<\/td>PALB2<\/td>FANCN<\/td>610355<\/td>SEQ, MLPA, NGS<\/td>B<\/td>Tumor<\/td> <\/tr>\n
Brugada syndrome type 1<\/td>BRGDA1, Right bundle branch block, ST segment elevation, sudden death<\/td>601144<\/td>SCN5A<\/td><\/td>600163<\/td>SEQ, MLPA, NGS<\/td>B<\/td>Cardio<\/td> <\/tr>\n
Brugada syndrome type 2<\/td>BRGDA2<\/td>611777<\/td>GPD1L<\/td><\/td>611778<\/td>SEQ, NGS<\/td>B<\/td>Cardio<\/td> <\/tr>\n
Brugada syndrome type 3<\/td>BRGDA3<\/td>611875<\/td>CACNA1C<\/td><\/td>114205<\/td>SEQ, NGS<\/td>B<\/td>Cardio<\/td> <\/tr>\n
Brugada syndrome type 4<\/td>BRGDA4<\/td>611876<\/td>CACNB2<\/td><\/td>600003<\/td>SEQ, NGS<\/td>B<\/td>Cardio<\/td> <\/tr>\n
Brugada syndrome type 5<\/td>BRGDA5<\/td>612838<\/td>SCN1B<\/td><\/td>600235<\/td>SEQ, NGS<\/td>B<\/td>Cardio<\/td> <\/tr>\n
Brugada syndrome type 6<\/td>BRGDA6<\/td>613119<\/td>KCNE3<\/td><\/td>604433<\/td>SEQ, NGS<\/td>B<\/td>Cardio<\/td> <\/tr>\n
Brugada syndrome type 7<\/td>BRGDA7<\/td>613120<\/td>SCN3B<\/td><\/td>608214<\/td>SEQ, NGS<\/td>B<\/td>Cardio<\/td> <\/tr>\n
Brugada syndrome type 8<\/td>BRGDA8<\/td>613123<\/td>HCN4<\/td><\/td>605206<\/td>SEQ, NGS<\/td>B<\/td>Cardio<\/td> <\/tr>\n
Brugada syndrome type 9<\/td>BRGDA9<\/td>616399<\/td>KCND3<\/td><\/td>605411<\/td>SEQ, NGS<\/td>B<\/td>Cardio<\/td> <\/tr>\n
Campomelic dysplasia<\/td>CMPD<\/td>114290<\/td>SOX9<\/td><\/td>608160<\/td>SEQ, MLPA, NGS<\/td>C<\/td>Syndro<\/td> <\/tr>\n
Campomelic dysplasia with autosomal sex reversal<\/td>CMPD<\/td>114290<\/td>SOX9<\/td><\/td>608160<\/td>SEQ, MLPA, NGS<\/td>C<\/td>Syndro<\/td> <\/tr>\n
Camptodactyly, tall stature and hearing loss<\/td>CATSHL syndrome<\/td>610474<\/td>FGFR3 mutation p.Arg621His<\/td><\/td>134934<\/td>SEQ<\/td>C<\/td>Syndro<\/td> <\/tr>\n
Camurati-Engelmann disease<\/td><\/td>131300<\/td>TGFB1<\/td><\/td>190180<\/td>SEQ, NGS<\/td>C<\/td>Tissue<\/td> <\/tr>\n
Carbamoylphosphate synthetase I deficiency<\/td>CPS1 deficiency<\/td>237300<\/td>CPS1<\/td><\/td>608307<\/td>SEQ, NGS<\/td>C<\/td>Meta<\/td> <\/tr>\n
Carbamoylphosphate synthetase I deficiency<\/td>CPS1 deficiency<\/td>237300<\/td>CPS1<\/td><\/td>608307<\/td>SEQ, NGS<\/td>C<\/td>Path<\/td> <\/tr>\n
Cardiofaciocutaneous syndrome 1<\/td>CFC1<\/td>115150<\/td>BRAF<\/td><\/td>164757<\/td>SEQ, NGS<\/td>C<\/td>Syndro<\/td> <\/tr>\n
Cardiofaciocutaneous syndrome 2<\/td>CFC2<\/td>615278<\/td>KRAS<\/td><\/td>190070<\/td>SEQ, NGS<\/td>C<\/td>Syndro<\/td> <\/tr>\n
Cardiomyopathy, dilated, 1A<\/td>CMD1A<\/td>115200<\/td>LMNA<\/td><\/td>150330<\/td>SEQ, MLPA, NGS<\/td>C<\/td>Cardio<\/td> <\/tr>\n
Cardiomyopathy, dilated, 1D<\/td>CMD1D<\/td>601494<\/td>TNNT2<\/td><\/td>191045<\/td>SEQ, MLPA, NGS<\/td>C<\/td>Cardio<\/td> <\/tr>\n
Cardiomyopathy, dilated, 1E<\/td>CMD1E<\/td>601154<\/td>SCN5A<\/td><\/td>600163<\/td>SEQ, MLPA, NGS<\/td>C<\/td>Cardio<\/td> <\/tr>\n
Cardiomyopathy, dilated, 1FF<\/td>CMD1FF<\/td>613286<\/td>TNNI3<\/td><\/td>191044<\/td>SEQ, NGS<\/td>C<\/td>Cardio<\/td> <\/tr>\n
Cardiomyopathy, dilated, 1MM<\/td>CMD1MM<\/td>615396<\/td>MYBPC3<\/td><\/td>600958<\/td>SEQ, MLPA, NGS<\/td>C<\/td>Cardio<\/td> <\/tr>\n
Cardiomyopathy, dilated, 1S<\/td>CMD1S<\/td>613426<\/td>MYH7<\/td><\/td>160760<\/td>SEQ, MLPA, NGS<\/td>C<\/td>Cardio<\/td> <\/tr>\n
Cardiomyopathy, dilated,1GG<\/td>CMD1GG<\/td>613642<\/td>SDHA<\/td><\/td>600857<\/td>SEQ, MLPA, NGS<\/td>C<\/td>Cardio<\/td> <\/tr>\n
Cardiomyopathy, dilated,1U<\/td>CMD1U<\/td>613694<\/td>PSEN1<\/td><\/td>104311<\/td>SEQ, MLPA, NGS<\/td>C<\/td>Cardio<\/td> <\/tr>\n
Cardiomyopathy, dilated,1V<\/td>CMD1V<\/td>613697<\/td>PSEN2<\/td><\/td>600759<\/td>SEQ, MLPA, NGS<\/td>C<\/td>Cardio<\/td> <\/tr>\n
Cardiomyopathy, dilated,1Y<\/td>CMD1Y<\/td>611878<\/td>TPM1<\/td><\/td>191010<\/td>SEQ, NGS<\/td>C<\/td>Cardio<\/td> <\/tr>\n
Cardiomyopathy, familial hypertrophic<\/td>CMH<\/td>192600<\/td>CAV3<\/td><\/td>601253<\/td>SEQ, MLPA, NGS<\/td>C<\/td>Cardio<\/td> <\/tr>\n
Cardiomyopathy, familial hypertrophic 1<\/td>CMH1<\/td>192600<\/td>MYH7<\/td><\/td>160760<\/td>SEQ, MLPA, NGS<\/td>C<\/td>Cardio<\/td> <\/tr>\n
Cardiomyopathy, familial hypertrophic 10<\/td>CMH10<\/td>608758<\/td>MYL2<\/td><\/td>160781<\/td>SEQ, NGS<\/td>C<\/td>Cardio<\/td> <\/tr>\n
Cardiomyopathy, familial hypertrophic 2<\/td>CMH2<\/td>115195<\/td>TNNT2<\/td><\/td>191045<\/td>SEQ, MLPA, NGS<\/td>C<\/td>Cardio<\/td> <\/tr>\n
Cardiomyopathy, familial hypertrophic 3<\/td>CMH3<\/td>115196<\/td>TPM1<\/td><\/td>191010<\/td>SEQ, NGS<\/td>C<\/td>Cardio<\/td> <\/tr>\n
Cardiomyopathy, familial hypertrophic 4<\/td>CMH4<\/td>115197<\/td>MYBPC3<\/td><\/td>600958<\/td>SEQ, MLPA, NGS<\/td>C<\/td>Cardio<\/td> <\/tr>\n
Cardiomyopathy, familial hypertrophic 7<\/td>CMH7<\/td>613690<\/td>TNNI3<\/td><\/td>191044<\/td>SEQ, NGS<\/td>C<\/td>Cardio<\/td> <\/tr>\n
Cardiomyopathy, familial hypertrophic 8<\/td>CMH8<\/td>608751<\/td>MYL3<\/td><\/td>160790<\/td>SEQ, NGS<\/td>C<\/td>Cardio<\/td> <\/tr>\n
Carney complex, type 1<\/td>CNC1<\/td>160980<\/td>PRKAR1A<\/td><\/td>188830<\/td>SEQ, MLPA, NGS<\/td>C<\/td>Tumor<\/td> <\/tr>\n
Catecholaminergic polymorphic ventricular tachycardia-3<\/td>CPVT3<\/td>614021<\/td>TECRL<\/td><\/td>617242<\/td>SEQ, NGS<\/td>C<\/td>Cardio<\/td> <\/tr>\n
Catecholaminergic polymorphic ventricular tachycardia-6<\/td>CPVT6<\/td>618782<\/td>CALM3<\/td><\/td>114183<\/td>SEQ, NGS<\/td>C<\/td>Cardio<\/td> <\/tr>\n
Celiac disease, susceptibility<\/td><\/td>212750<\/td>HLA-DQA1 and-DQB1, analysis of risk-alleles encoding HLA-DQ2 and -DQ8 only<\/td><\/td>146880, 604305<\/td>SEQ<\/td>C<\/td>Meta<\/td> <\/tr>\n
Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss<\/td>CAPOS-syndrome<\/td>601338<\/td>ATP1A3<\/td><\/td>182350<\/td>SEQ, MLPA, NGS<\/td>C<\/td>Neuro<\/td> <\/tr>\n
Cerebellar ataxia, mental retardation and dysequilibrium syndrome 1<\/td>CAMRQ1<\/td>224050<\/td>VLDLR<\/td><\/td>192977<\/td>SEQ, MLPA, NGS<\/td>C<\/td>Neuro<\/td> <\/tr>\n
Cerebeller ataxia, mental retardation and dysequilibrium syndrome 3<\/td>CAMRQ3<\/td>613227<\/td>CA8<\/td><\/td>114815<\/td>SEQ, NGS<\/td>C<\/td>Neuro<\/td> <\/tr>\n
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1<\/td>CADASIL1<\/td>125310<\/td>NOTCH3<\/td><\/td>600276<\/td>SEQ, MLPA, NGS<\/td>C<\/td>Neuro<\/td> <\/tr>\n
cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2<\/td>CADASIL2<\/td>616779<\/td>HTRA1<\/td><\/td>602194<\/td>SEQ, NGS<\/td>C<\/td>Neuro<\/td> <\/tr>\n
cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy<\/td>CARASIL , Maeda syndrome<\/td>600142<\/td>HTRA1<\/td><\/td>602194<\/td>SEQ, NGS<\/td>C<\/td>Neuro<\/td> <\/tr>\n
Cerebrooculofacioskeletal syndrome type 1<\/td>COFS1, Pena-Shokeir syndrome type 2<\/td>214150<\/td>ERCC6<\/td><\/td>609413<\/td>SEQ, NGS<\/td>C<\/td>Syndro<\/td> <\/tr>\n
Cerebrooculofacioskeletal syndrome type 2<\/td>COFS2<\/td>610756<\/td>ERCC2<\/td><\/td>126340<\/td>SEQ, NGS<\/td>C<\/td>Syndro<\/td> <\/tr>\n
Cerebrooculofacioskeletal syndrome type 3<\/td>COFS3<\/td>616570<\/td>ERCC5<\/td><\/td>133530<\/td>SEQ, NGS<\/td>C<\/td>Syndro<\/td> <\/tr>\n
Ceroid lipofuscinosis, neuronal, 2<\/td>CLN2, Jansky-Bielschowsky disease, late infantile form included<\/td>204500<\/td>TPP1<\/td><\/td>607998<\/td>SEQ, MLPA, NGS<\/td>C<\/td>Meta<\/td> <\/tr>\n
Ceroid lipofuscinosis, neuronal, 4a, autosomal recessive<\/td>CLN4A, adult onset, Kufs type<\/td>204300<\/td>CLN6<\/td><\/td>606725<\/td>SEQ, MLPA, NGS<\/td>C<\/td>Meta<\/td> <\/tr>\n
Ceroid lipofuscinosis, neuronal, 6<\/td>CLN6, late infantile, variant<\/td>601780<\/td>CLN6<\/td><\/td>606725<\/td>SEQ, MLPA, NGS<\/td>C<\/td>Meta<\/td> <\/tr>\n
Ceroid-Lipofuscinose, neuronal, Typ 1<\/td>CLN1, infantile Santavuori-Haltia disease included<\/td>256730<\/td>PPT1<\/td><\/td>600722<\/td>SEQ, MLPA, NGS<\/td>C<\/td>Meta<\/td> <\/tr>\n
Charcot-Marie-Tooth neuropathy type 1A<\/td>CMT1A, HMSN1A<\/td>118220<\/td>PMP22<\/td><\/td>601097<\/td>SEQ, MLPA, NGS<\/td>C<\/td>Neuro<\/td> <\/tr>\n
Charcot-Marie-Tooth neuropathy type 1B<\/td>CMT1B, HMSN1B<\/td>118200<\/td>MPZ<\/td>P0<\/td>159440<\/td>SEQ, MLPA, NGS<\/td>C<\/td>Neuro<\/td> <\/tr>\n
Charcot-Marie-Tooth neuropathy type 1C<\/td>CMT1C, HMSN1C<\/td>601098<\/td>LITAF<\/td><\/td>603795<\/td>SEQ, NGS<\/td>C<\/td>Neuro<\/td> <\/tr>\n
Charcot-Marie-Tooth neuropathy type 1D<\/td>CMT1D, HMSN1D<\/td>607678<\/td>EGR2<\/td><\/td>129010<\/td>SEQ, MLPA, NGS<\/td>C<\/td>Neuro<\/td> <\/tr>\n
Charcot-Marie-Tooth neuropathy type 1E<\/td>CMT1E, HMSN1E<\/td>118300<\/td>PMP22<\/td><\/td>601097<\/td>SEQ, MLPA, NGS<\/td>C<\/td>Neuro<\/td> <\/tr>\n
Charcot-Marie-Tooth neuropathy type 1F<\/td>CMT1F, HMSN1F<\/td>607734<\/td>NEFL<\/td>NF68<\/td>162280<\/td>SEQ, MLPA, NGS<\/td>C<\/td>Neuro<\/td> <\/tr>\n
Charcot-Marie-Tooth neuropathy type 2A2<\/td>CMT2A2, HMSN2A2<\/td>609260<\/td>MFN2<\/td><\/td>608507<\/td>SEQ, MLPA, NGS<\/td>C<\/td>Neuro<\/td> <\/tr>\n
Charcot-Marie-Tooth neuropathy type 2B<\/td>CMT2B, HMSN2B<\/td>600882<\/td>RAB7A<\/td><\/td>602298<\/td>SEQ, MLPA, NGS<\/td>C<\/td>Neuro<\/td> <\/tr>\n
Charcot-Marie-Tooth neuropathy type 2B1<\/td>CMT2B1, HMSN2B1<\/td>605588<\/td>LMNA<\/td><\/td>150330<\/td>SEQ, MLPA, NGS<\/td>C<\/td>Neuro<\/td> <\/tr>\n
Charcot-Marie-Tooth neuropathy type 2C<\/td>CMT2C, HMSN2C<\/td>606071<\/td>TRPV4<\/td><\/td>605427<\/td>SEQ, NGS<\/td>C<\/td>Neuro<\/td> <\/tr>\n
Charcot-Marie-Tooth neuropathy type 2D<\/td>CMT2D, HMSN2D<\/td>601472<\/td>GARS1<\/td>GARS<\/td>600287<\/td>SEQ, MLPA, NGS<\/td>C<\/td>Neuro<\/td> <\/tr>\n
Charcot-Marie-Tooth neuropathy type 2E<\/td>CMT2E, HMSN2E<\/td>607684<\/td>NEFL<\/td>NF68<\/td>162280<\/td>SEQ, MLPA, NGS<\/td>C<\/td>Neuro<\/td> <\/tr>\n
Charcot-Marie-Tooth neuropathy type 2I<\/td>CMT2I, HMSN2I<\/td>607677<\/td>MPZ<\/td>P0<\/td>159440<\/td>SEQ, MLPA, NGS<\/td>C<\/td>Neuro<\/td> <\/tr>\n
Charcot-Marie-Tooth neuropathy type 2J<\/td>CMT2J, HMSN2J<\/td>607736<\/td>MPZ<\/td>P0<\/td>159440<\/td>SEQ, MLPA, NGS<\/td>C<\/td>Neuro<\/td> <\/tr>\n
Charcot-Marie-Tooth neuropathy type 2Y<\/td>CMT2Y<\/td>616687<\/td>VCP<\/td><\/td>601023<\/td>SEQ, NGS<\/td>C<\/td>Neuro<\/td> <\/tr>\n
Charcot-Marie-Tooth neuropathy type 4A<\/td>CMT4A<\/td>214400<\/td>GDAP1<\/td><\/td>606598<\/td>SEQ, MLPA, NGS<\/td>C<\/td>Neuro<\/td> <\/tr>\n
Charcot-Marie-Tooth neuropathy type 4B1<\/td>CMT4B1<\/td>601382<\/td>MTMR2<\/td><\/td>603557<\/td>SEQ, MLPA, NGS<\/td>C<\/td>Neuro<\/td> <\/tr>\n
Charcot-Marie-Tooth neuropathy type 4J<\/td>CMT4J<\/td>611228<\/td>FIG4<\/td><\/td>609390<\/td>SEQ, NGS<\/td>C<\/td>Neuro<\/td> <\/tr>\n
Charcot-Marie-Tooth neuropathy type X<\/td>CMTX, HMSNX<\/td>302800<\/td>GJB1<\/td>Connexin 32<\/td>304040<\/td>SEQ, MLPA, NGS<\/td>C<\/td>Neuro<\/td> <\/tr>\n
Charcot-Marie-Tooth neuropathy type X5<\/td>Rosenberg-Chutorian-syndrome, CMTX5<\/td>311070<\/td>PRPS1<\/td><\/td>311850<\/td>SEQ, NGS<\/td>C<\/td>Neuro<\/td> <\/tr>\n
Charcot-Marie-Tooth neuropathy, axonal, type 2F<\/td>CMT2F<\/td>606595<\/td>HSPB1<\/td><\/td>602195<\/td>SEQ, MLPA, NGS<\/td>C<\/td>Neuro<\/td> <\/tr>\n
Charcot-Marie-Tooth neuropathy, axonal, type 2K<\/td>CMT2K<\/td>607831<\/td>GDAP1<\/td><\/td>606598<\/td>SEQ, MLPA, NGS<\/td>C<\/td>Neuro<\/td> <\/tr>\n
Charcot-Marie-Tooth neuropathy, axonal, type 2L<\/td>CMT2L<\/td>608673<\/td>HSPB8<\/td><\/td>608014<\/td>SEQ, MLPA, NGS<\/td>C<\/td>Neuro<\/td> <\/tr>\n
Charcot-Marie-Tooth neuropathy, axonal, type 2M<\/td>CMT2M<\/td>606482<\/td>DNM2<\/td><\/td>602378<\/td>SEQ, NGS<\/td>C<\/td>Neuro<\/td> <\/tr>\n
Charcot-Marie-Tooth neuropathy, axonal, type 2N<\/td>CMT2N<\/td>613287<\/td>AARS<\/td><\/td>601065<\/td>SEQ, NGS<\/td>C<\/td>Neuro<\/td> <\/tr>\n
Charcot-Marie-Tooth neuropathy, axonal, with vocal cord paresis<\/td><\/td>607706<\/td>GDAP1<\/td><\/td>606598<\/td>SEQ, MLPA, NGS<\/td>C<\/td>Neuro<\/td> <\/tr>\n
Charcot-Marie-Tooth neuropathy, dominant intermediate, type B<\/td>CMTDIB<\/td>606482<\/td>DNM2<\/td><\/td>602378<\/td>SEQ, NGS<\/td>C<\/td>Neuro<\/td> <\/tr>\n
Chediak-Higashi syndrome<\/td>CHS<\/td>214500<\/td>LYST<\/td>CHS1<\/td>606897<\/td>SEQ, NGS<\/td>C<\/td>Syndro<\/td> <\/tr>\n
Cherubism<\/td>CRBM<\/td>118400<\/td>SH3BP2<\/td><\/td>602104<\/td>SEQ, NGS<\/td>C<\/td>Syndro<\/td> <\/tr>\n
Chilblain lupus type 1<\/td>CHBL1<\/td>610448<\/td>TREX1<\/td><\/td>606609<\/td>SEQ, MLPA, NGS<\/td>C<\/td>Geno<\/td> <\/tr>\n
Chilblain lupus type 2<\/td>CHBL2<\/td>614415<\/td>SAMHD1<\/td><\/td>606754<\/td>SEQ, MLPA, NGS<\/td>C<\/td>Geno<\/td> <\/tr>\n
Cholelithiasis, low phospholipid-associated<\/td>LPAC, Gallbladder disease 1<\/td>600803<\/td>ABCB4<\/td><\/td>171060<\/td>SEQ, MLPA, NGS<\/td>C<\/td>Meta<\/td> <\/tr>\n
Cholestasis, benign recurrent intrahepatic, type 1<\/td>BRIC1, Summerskill syndrome<\/td>243300<\/td>ATP8B1<\/td><\/td>602397<\/td>SEQ, NGS<\/td>C<\/td>Meta<\/td> <\/tr>\n
Cholestasis, benign recurrent intrahepatic, type 2<\/td>BRIC2<\/td>605479<\/td>ABCB11<\/td><\/td>603201<\/td>SEQ, NGS<\/td>C<\/td>Meta<\/td> <\/tr>\n
Cholestasis, intrahepatic, of pregnancy, 1<\/td>ICP1<\/td>147480<\/td>ATP8B1<\/td><\/td>602397<\/td>SEQ, NGS<\/td>C<\/td>Meta<\/td> <\/tr>\n
Cholestasis, intrahepatic, of pregnancy, 3<\/td>ICP3<\/td>614972<\/td>ABCB4<\/td><\/td>171060<\/td>SEQ, MLPA, NGS<\/td>C<\/td>Meta<\/td> <\/tr>\n
Cholestasis, progressive familial intrahepatic, type 1<\/td>PFIC1, Byler Disease<\/td>211600<\/td>ATP8B1<\/td><\/td>602397<\/td>SEQ, NGS<\/td>C<\/td>Meta<\/td> <\/tr>\n
Cholestasis, progressive familial intrahepatic, type 2<\/td>PFIC2<\/td>601847<\/td>ABCB11<\/td><\/td>603201<\/td>SEQ, NGS<\/td>C<\/td>Meta<\/td> <\/tr>\n
Cholestasis, progressive familial intrahepatic, type 3<\/td>PFIC3<\/td>602347<\/td>ABCB4<\/td><\/td>171060<\/td>SEQ, MLPA, NGS<\/td>C<\/td>Meta<\/td> <\/tr>\n
Chondrodysplasia, Blomstrand type<\/td><\/td>215045<\/td>PTH1R<\/td><\/td>168468<\/td>SEQ, NGS<\/td>C<\/td>Tissue<\/td> <\/tr>\n
Chondrodysplasia, Grebe type<\/td><\/td>200700<\/td>GDF5<\/td><\/td>601146<\/td>SEQ, NGS<\/td>C<\/td>Tissue<\/td> <\/tr>\n
Choreoacanthocytosis<\/td>Neuroacanthocytosis, Levine-Critchley syndrome<\/td>200150<\/td>VPS13A<\/td><\/td>605978<\/td>SEQ, NGS<\/td>C<\/td>Neuro<\/td> <\/tr>\n
Choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction<\/td>CAHTP, brain-lung-thyroid syndrome<\/td>610978<\/td>NKX2-1<\/td><\/td>600635<\/td>SEQ, MLPA, NGS<\/td>C<\/td>Neuro<\/td> <\/tr>\n
Choroidal dystrophy, central areolar, type 2<\/td>CACD<\/td>613105<\/td>PRPH2<\/td><\/td>179605<\/td>SEQ, MLPA, NGS<\/td>C<\/td>Sensory<\/td> <\/tr>\n
Chronic progressive external ophthalmoplegia type 2<\/td>CPEO2, PEOA2 progressive external ophthalmoplegia 2<\/td>609283<\/td>SLC25A4<\/td>ANT1<\/td>103220<\/td>SEQ, MLPA, NGS<\/td>C<\/td>Neuro<\/td> <\/tr>\n
Chronic progressive external ophthalmoplegia type 3,<\/td>CPEO3, progressive external ophthalmoplegia 3, PEOA3<\/td>609286<\/td>TWNK<\/td>C10ORF2, TWINKLE<\/td>606075<\/td>SEQ, MLPA, NGS<\/td>C<\/td>Neuro<\/td> <\/tr>\n
Chronic progressive external ophthalmoplegia type 4<\/td>CPEO4, PEOA4 progressive external ophthalmoplegia 4<\/td>610131<\/td>POLG2<\/td><\/td>604983<\/td>SEQ, MLPA, NGS<\/td>C<\/td>Neuro<\/td> <\/tr>\n
Chronic progressive external ophthalmoplegia type 5<\/td>CPEO5, PEOA5 progressive external ophthalmoplegia 5<\/td>613077<\/td>RRM2B<\/td><\/td>604712<\/td>SEQ, MLPA, NGS<\/td>C<\/td>Neuro<\/td> <\/tr>\n
Citrullinemia, classic<\/td>Citrullinemia type I, CTLN1<\/td>215700<\/td>ASS1<\/td><\/td>603470<\/td>SEQ, NGS<\/td>C<\/td>Meta<\/td> <\/tr>\n
Citrullinemia, classic<\/td>Citrullinemia type I, CTLN1<\/td>215700<\/td>ASS1<\/td><\/td>603470<\/td>SEQ, NGS<\/td>C<\/td>Path<\/td> <\/tr>\n
Citrullinemia, type II, adult-onset<\/td>CTLN2, Citrin deficiency<\/td>603471<\/td>SLC25A13<\/td><\/td>603859<\/td>SEQ, NGS<\/td>C<\/td>Meta<\/td> <\/tr>\n
Citrullinemia, type II, adult-onset<\/td>CTLN2, citrin deficiency<\/td>603471<\/td>SLC25A13<\/td><\/td>603859<\/td>SEQ, NGS<\/td>C<\/td>Path<\/td> <\/tr>\n
Citrullinemia, type II, neonatal-onset<\/td>Cholestasis, neonatal intrahepatic, caused by citrin deficiency, NICCD<\/td>605814<\/td>SLC25A13<\/td><\/td>603859<\/td>SEQ, NGS<\/td>C<\/td>Meta<\/td> <\/tr>\n
Citrullinemia, type II, neonatal-onset<\/td>Neonatal intrahepatic cholestasis caused by citrin deficiency, NICCD<\/td>605814<\/td>SLC25A13<\/td><\/td>603859<\/td>SEQ, NGS<\/td>C<\/td>Path<\/td> <\/tr>\n
Cleidocranial dysplasia<\/td>CCD<\/td>119600<\/td>RUNX2<\/td><\/td>600211<\/td>SEQ, MLPA, NGS<\/td>C<\/td>Tissue<\/td> <\/tr>\n
Cockayne syndrome, type A<\/td>CSA<\/td>216400<\/td>ERCC8<\/td><\/td>609412<\/td>SEQ, NGS<\/td>C<\/td>Syndro<\/td> <\/tr>\n
Cockayne syndrome, type B<\/td>CSB<\/td>133540<\/td>ERCC6<\/td><\/td>609413<\/td>SEQ, NGS<\/td>C<\/td>Syndro<\/td> <\/tr>\n
Coffin-Lowry syndrome<\/td><\/td>303600<\/td>RPS6KA3<\/td><\/td>300075<\/td>SEQ, MLPA, NGS<\/td>C<\/td>Syndro<\/td> <\/tr>\n
Cohen syndrome<\/td>COH1<\/td>216550<\/td>VPS13B<\/td><\/td>607817<\/td>SEQ, MLPA, NGS<\/td>C<\/td>Syndro<\/td> <\/tr>\n
Colorectal Cancer, susceptibility type 10<\/td><\/td>612591<\/td>POLD1<\/td><\/td>174761<\/td>SEQ, NGS<\/td>C<\/td>Tumor<\/td> <\/tr>\n
Colorectal Cancer, susceptibility type 12<\/td><\/td>615083<\/td>POLE<\/td><\/td>174762<\/td>SEQ, NGS<\/td>C<\/td>Tumor<\/td> <\/tr>\n
Combined saposin deficiency<\/td><\/td>611721<\/td>PSAP<\/td><\/td>176801<\/td>SEQ, NGS<\/td>C<\/td>Neuro<\/td> <\/tr>\n
Complex cortical dysplasia with other brain malformations type 1<\/td>CDCBM1<\/td>614039<\/td>TUBB3<\/td><\/td>602661<\/td>SEQ, NGS<\/td>C<\/td>Neuro<\/td> <\/tr>\n
Congenital bilateral absence of vas deferens<\/td>CBAVD<\/td>277180<\/td>CFTR<\/td><\/td>602421<\/td>SEQ, MLPA, NGS<\/td>C<\/td>Syndro<\/td> <\/tr>\n
Congenital fibrosis of extraocular muscles type 1<\/td>CFEOM1<\/td>135700<\/td>KIF21A<\/td><\/td>608283<\/td>SEQ, NGS<\/td>C<\/td>Sensory<\/td> <\/tr>\n
Congenital fibrosis of extraocular muscles type 2<\/td>CFEOM2<\/td>602078<\/td>PHOX2A<\/td>ARIX<\/td>602753<\/td>SEQ, NGS<\/td>C<\/td>Sensory<\/td> <\/tr>\n
Congenital fibrosis of extraocular muscles type 3A<\/td>CFEOM3A<\/td>600638<\/td>TUBB3<\/td><\/td>602661<\/td>SEQ, NGS<\/td>C<\/td>Sensory<\/td> <\/tr>\n
Congenital fibrosis of extraocular muscles type 3B<\/td>CFEOM3B<\/td>135700<\/td>KIF21A<\/td><\/td>608283<\/td>SEQ, NGS<\/td>C<\/td>Sensory<\/td> <\/tr>\n
Congenital heart defects, multiple types, 5<\/td><\/td>617912<\/td>GATA5<\/td><\/td>611496<\/td>SEQ, NGS<\/td>C<\/td>Tissue<\/td> <\/tr>\n
Congenital nongoitrous hypothyroidism-1<\/td>CHNG1<\/td>275200<\/td>TSHR<\/td><\/td>603372<\/td>SEQ, MLPA, NGS<\/td>C<\/td>Meta<\/td> <\/tr>\n
Contractural arachnodactyly, congenital<\/td>CCA, Beals syndrome, Beals-Hecht syndrome<\/td>121050<\/td>FBN2 exons 8, 9, 17, 24 – 35<\/td><\/td>612570<\/td>SEQ<\/td>C<\/td>Tissue<\/td> <\/tr>\n
Cornelia de Lange syndrome 1<\/td>CDLS1<\/td>122470<\/td>NIPBL<\/td><\/td>608667<\/td>SEQ, MLPA, NGS<\/td>C<\/td>Syndro<\/td> <\/tr>\n
Coronary artery disease, autosomal dominant, 2<\/td>ADCAD2<\/td>610947<\/td>LRP6<\/td><\/td>603507<\/td>SEQ, NGS<\/td>C<\/td>Cardio<\/td> <\/tr>\n
Corpus callosum, agenesis of, with abnormal genitalia<\/td>Proud syndrome<\/td>300004<\/td>ARX<\/td><\/td>300382<\/td>SEQ, MLPA, NGS<\/td>C<\/td>Syndro<\/td> <\/tr>\n
Costello syndrome<\/td>Faciocutaneoskeletal (FCS) syndrome<\/td>218040<\/td>HRAS<\/td><\/td>190020<\/td>SEQ, NGS<\/td>C<\/td>Syndro<\/td> <\/tr>\n
Cowden syndrome, type 1<\/td><\/td>158350<\/td>PTEN<\/td><\/td>601728<\/td>SEQ, MLPA, NGS<\/td>C<\/td>Tumor<\/td> <\/tr>\n
Cowden syndrome, type 2<\/td><\/td>612359<\/td>SDHB<\/td><\/td>185470<\/td>SEQ, MLPA, NGS<\/td>C<\/td>Tumor<\/td> <\/tr>\n
Cowden syndrome, type 3<\/td><\/td>615106<\/td>SDHD<\/td><\/td>602690<\/td>SEQ, MLPA, NGS<\/td>C<\/td>Tumor<\/td> <\/tr>\n
Cowden syndrome, type 5<\/td><\/td>615108<\/td>PIK3CA<\/td><\/td>171834<\/td>SEQ, NGS<\/td>C<\/td>Tumor<\/td> <\/tr>\n
Craniosynostosis type 1<\/td>CRS1<\/td>123100<\/td>TWIST1<\/td><\/td>601622<\/td>SEQ, MLPA, NGS<\/td>C<\/td>Syndro<\/td> <\/tr>\n
CRASH syndrome<\/td>Corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraplegia, and hydrocephalus<\/td>303350<\/td>L1CAM<\/td><\/td>308840<\/td>SEQ, MLPA, NGS<\/td>C<\/td>Syndro<\/td> <\/tr>\n
Creatine phosphokinase, elevated serum<\/td>high serum CPK<\/td>123320<\/td>CAV3<\/td><\/td>601253<\/td>SEQ, MLPA, NGS<\/td>C<\/td>Cardio<\/td> <\/tr>\n
Creutzfeld-Jakob disease<\/td>familial, CJD<\/td>123400<\/td>PRNP<\/td><\/td>176640<\/td>SEQ, NGS<\/td>C<\/td>Neuro<\/td> <\/tr>\n
Crigler-Najjar syndrome type I<\/td>Hyperbilirubinemia, Crigler-Najjar type I (HBLRCN1)<\/td>218800<\/td>UGT1A1<\/td>UGT1<\/td>191740<\/td>SEQ, NGS<\/td>C<\/td>Meta<\/td> <\/tr>\n
Crigler-Najjar syndrome type II<\/td>Hyperbilirubinemia, Crigler-Najjar type II (HBLRCN2)<\/td>606785<\/td>UGT1A1<\/td>UGT1<\/td>191740<\/td>SEQ, NGS<\/td>C<\/td>Meta<\/td> <\/tr>\n
Crouzon syndrome<\/td>Craniofacial dysostosis, type 1, CFD1<\/td>123500<\/td>FGFR2<\/td><\/td>176943<\/td>SEQ, MLPA, NGS<\/td>C<\/td>Syndro<\/td> <\/tr>\n
Crouzon syndrome with acanthosis nigricans<\/td>CAN<\/td>612247<\/td>FGFR3 mutation p.Ala391Glu<\/td><\/td>134934<\/td>SEQ<\/td>C<\/td>Syndro<\/td> <\/tr>\n
Cryopyrin-associated periodic syndrome 3<\/td>CAPS3, CINCA syndrome<\/td>607115<\/td>NLRP3<\/td><\/td>606416<\/td>SEQ, NGS<\/td>C<\/td>Fever<\/td> <\/tr>\n
Currarino syndrom<\/td><\/td>176450<\/td>MNX1<\/td><\/td>142994<\/td>SEQ, NGS<\/td>C<\/td>Syndro<\/td> <\/tr>\n
Cutaneous malignant melanoma-3<\/td>CMM3<\/td>609048<\/td>CDK4 only exon 2 and MLPA<\/td><\/td>123829<\/td>SEQ, MLPA<\/td>C<\/td>Neuro<\/td> <\/tr>\n
Cystic fibrosis<\/td>CF, mucoviscidosis<\/td>219700<\/td>CFTR<\/td><\/td>602421<\/td>SEQ, MLPA, NGS<\/td>C<\/td>Meta<\/td> <\/tr>\n
Darier-White disease<\/td>DAR, keratosis follicularis<\/td>124200<\/td>ATP2A2<\/td><\/td>108740<\/td>SEQ, NGS<\/td>D<\/td>Geno<\/td> <\/tr>\n
De Sanctis-Cacchione syndrome<\/td><\/td>278800<\/td>ERCC6<\/td><\/td>609413<\/td>SEQ, NGS<\/td>D<\/td>Syndro<\/td> <\/tr>\n
Deafness, autosomal dominant type 8\/12<\/td>DFNA12\/DFNA8<\/td>601543<\/td>TECTA<\/td><\/td>602574<\/td>SEQ, NGS<\/td>D<\/td>Sensory<\/td> <\/tr>\n
Deafness, autosomal dominant, type 13<\/td>DFNA13<\/td>601868<\/td>COL11A2<\/td><\/td>120290<\/td>SEQ, NGS<\/td>D<\/td>Sensory<\/td> <\/tr>\n
Deafness, autosomal dominant, type 2B<\/td>DFNA2B<\/td>612644<\/td>GJB3<\/td>Connexin 31<\/td>603324<\/td>SEQ, MLPA, NGS<\/td>D<\/td>Sensory<\/td> <\/tr>\n
Deafness, autosomal recessive type 21<\/td>DFNB21<\/td>603629<\/td>TECTA<\/td><\/td>602574<\/td>SEQ, NGS<\/td>D<\/td>Sensory<\/td> <\/tr>\n
Deafness, autosomal recessive, type 1A<\/td>DFNB1A<\/td>220290<\/td>GJB2<\/td>Connexin 26<\/td>121011<\/td>SEQ, MLPA, NGS<\/td>D<\/td>Sensory<\/td> <\/tr>\n
Deafness, autosomal recessive, type 1B<\/td>DFNB1B<\/td>612645<\/td>GJB6, only CNV<\/td>Connexin 30<\/td>604418<\/td>MLPA<\/td>D<\/td>Sensory<\/td> <\/tr>\n
Deafness, autosomal recessive, type 53<\/td>DFNB53<\/td>609706<\/td>COL11A2<\/td><\/td>120290<\/td>SEQ, NGS<\/td>D<\/td>Sensory<\/td> <\/tr>\n
Deafness, X-linked type 2<\/td>DFNX2<\/td>304400<\/td>POU3F4<\/td><\/td>300039<\/td>SEQ, MLPA, NGS<\/td>D<\/td>Sensory<\/td> <\/tr>\n
Deafness, X-linked, conductive with stapes fixation<\/td>DFN3<\/td>304400<\/td>POU3F4<\/td><\/td>300039<\/td>SEQ, MLPA, NGS<\/td>D<\/td>Sensory<\/td> <\/tr>\n
Deafness, X-linked, type 1<\/td>DFNX1<\/td>304500<\/td>PRPS1<\/td><\/td>311850<\/td>SEQ, NGS<\/td>D<\/td>Sensory<\/td> <\/tr>\n
Deafness-optic atrophy plus syndrome<\/td>dominant optic atrophy plus syndrome, DOA+<\/td>125250<\/td>OPA1<\/td><\/td>605290<\/td>SEQ, MLPA, NGS<\/td>D<\/td>Sensory<\/td> <\/tr>\n
Diabetes mellitus, noninsulin-dependent<\/td>NIDDM<\/td>125853<\/td>PPARG<\/td><\/td>601487<\/td>SEQ, MLPA, NGS<\/td>D<\/td>Meta<\/td> <\/tr>\n
DiGeorge syndrome<\/td><\/td>188400<\/td>del22q11.2<\/td><\/td><\/td>MLPA<\/td>D<\/td>Micro<\/td> <\/tr>\n
DiGeorge syndrome \/ velocardiofacial syndrome complex-2<\/td><\/td>601362<\/td>del10p13-14<\/td><\/td><\/td>MLPA<\/td>D<\/td>Micro<\/td> <\/tr>\n
Dihydropyrimidinase deficiency<\/td>DPYSD, Dihydropyrimidinuria<\/td>222748<\/td>DPYS<\/td><\/td>613326<\/td>SEQ, NGS<\/td>D<\/td>Meta<\/td> <\/tr>\n
Dihydropyrimidine dehydrogenase deficiency<\/td><\/td>274270<\/td>DPYD exons 11, 13, 14 and 22<\/td><\/td>612779<\/td>SEQ<\/td>D<\/td>Meta<\/td> <\/tr>\n
DOPA-responsive dystonia due to sepiapterin reductase deficiency<\/td><\/td>612716<\/td>SPR<\/td><\/td>182125<\/td>SEQ, NGS<\/td>D<\/td>Neuro<\/td> <\/tr>\n
DOPA-responsive dystonia, autosomal dominant<\/td>DRD, Segawa syndrome<\/td>128230<\/td>GCH1<\/td>DYT5A<\/td>600225<\/td>SEQ, MLPA, NGS<\/td>D<\/td>Neuro<\/td> <\/tr>\n
DOPA-responsive dystonia, autosomal recessive<\/td>DRD, Segawa syndrome<\/td>605407<\/td>TH<\/td>DYT5B<\/td>191290<\/td>SEQ, MLPA, NGS<\/td>D<\/td>Neuro<\/td> <\/tr>\n
Dravet syndrome<\/td>Severe myoclonic epilepsy of infancy, SMEI<\/td>607208<\/td>SCN1A<\/td><\/td>182389<\/td>SEQ, MLPA, NGS<\/td>D<\/td>Epi<\/td> <\/tr>\n
Du Pan syndrome<\/td>fibular hypoplasia and complex brachydactyly<\/td>228900<\/td>GDF5<\/td><\/td>601146<\/td>SEQ, NGS<\/td>D<\/td>Tissue<\/td> <\/tr>\n
Duane-radial ray syndrome<\/td>Okihiro syndrome<\/td>607323<\/td>SALL4<\/td><\/td>607343<\/td>SEQ, MLPA, NGS<\/td>D<\/td>Syndro<\/td> <\/tr>\n
Duchenne muscular dystrophy<\/td>DMD<\/td>310200<\/td>DMD<\/td><\/td>300377<\/td>SEQ, MLPA, NGS<\/td>D<\/td>Neuro<\/td> <\/tr>\n
Dyschondrosteosis Leri-Weill type<\/td>LWD<\/td>127300<\/td>SHOX<\/td><\/td>312865<\/td>SEQ, MLPA, NGS<\/td>D<\/td>Tissue<\/td> <\/tr>\n
Dyserythropoietic anemia, congenital, type IV<\/td>CDAN4<\/td>613673<\/td>KLF1<\/td><\/td>600599<\/td>SEQ, NGS<\/td>D<\/td>Coagul<\/td> <\/tr>\n
Dystonia type 12<\/td>DYT12<\/td>128235<\/td>ATP1A3<\/td><\/td>182350<\/td>SEQ, MLPA, NGS<\/td>D<\/td>Neuro<\/td> <\/tr>\n
Dystonia-11, myoclonic<\/td>DYT11<\/td>159900<\/td>SGCE<\/td><\/td>604149<\/td>SEQ, MLPA, NGS<\/td>D<\/td>Neuro<\/td> <\/tr>\n
Early-onset vitelliform macular dystrophy<\/td>VMD2<\/td>153700<\/td>BEST1<\/td><\/td>607854<\/td>SEQ, MLPA, NGS<\/td>E<\/td>Sensory<\/td> <\/tr>\n
EEC syndrome 3<\/td>ectrodactyly, ectodermal dysplasia, and cleft lip\/palate syndrome 3<\/td>604292<\/td>TP63<\/td>p63, TP73L<\/td>603273<\/td>SEQ, NGS<\/td>E<\/td>Syndro<\/td> <\/tr>\n
Ehlers-Danlos syndrome type IV<\/td>vascular type<\/td>130050<\/td>COL3A1<\/td><\/td>120180<\/td>SEQ, MLPA, NGS<\/td>E<\/td>Tissue<\/td> <\/tr>\n
Ehlers-Danlos syndrome, arthrochalasia type 1<\/td>EDSARTH1<\/td>130060<\/td>COL1A1<\/td><\/td>120150<\/td>SEQ, MLPA, NGS<\/td>E<\/td>Tissue<\/td> <\/tr>\n
Ehlers-Danlos syndrome, arthrochalasia type 2<\/td>EDSARTH2<\/td>617821<\/td>COL1A2<\/td><\/td>120160<\/td>SEQ, MLPA, NGS<\/td>E<\/td>Tissue<\/td> <\/tr>\n
Ehlers-Danlos syndrome, classic type 1<\/td>EDSCL1<\/td>130000<\/td>COL5A1<\/td><\/td>120215<\/td>SEQ, MLPA, NGS<\/td>E<\/td>Tissue<\/td> <\/tr>\n
Ehlers-Danlos syndrome, classic type 2<\/td>EDSCL2<\/td>130010<\/td>COL5A2<\/td><\/td>120190<\/td>SEQ, NGS<\/td>E<\/td>Tissue<\/td> <\/tr>\n
Ehlers-Danlos syndrome, musculocontractural type 1<\/td>EDSMC1<\/td>601776<\/td>CHST14<\/td><\/td>608429<\/td>SEQ, NGS<\/td>E<\/td>Tissue<\/td> <\/tr>\n
Eiken skeletal dysplasia<\/td>Eiken syndrome<\/td>600002<\/td>PTH1R<\/td><\/td>168468<\/td>SEQ, NGS<\/td>E<\/td>Tissue<\/td> <\/tr>\n
Emery-Dreifuss muscular dystrophy type 1, X-linked<\/td>EDMD1<\/td>310300<\/td>EMD<\/td><\/td>300384<\/td>SEQ, NGS<\/td>E<\/td>Neuro<\/td> <\/tr>\n
Emery-Dreifuss muscular dystrophy type 2, autosomal dominant<\/td><\/td>181350<\/td>LMNA<\/td>Lamin-A\/C<\/td>150330<\/td>SEQ, MLPA, NGS<\/td>E<\/td>Neuro<\/td> <\/tr>\n
Emery-Dreifuss muscular dystrophy type 3, autosomal recessive<\/td><\/td>616516<\/td>LMNA<\/td>Lamin-A\/C<\/td>150330<\/td>SEQ, MLPA, NGS<\/td>E<\/td>Neuro<\/td> <\/tr>\n
Emery-Dreifuss muscular dystrophy type 6, X-linked Typ 6<\/td>EDMD6<\/td>300696<\/td>FHL1<\/td><\/td>300163<\/td>SEQ, NGS<\/td>E<\/td>Neuro<\/td> <\/tr>\n
Encephalopathy, neonatal severe<\/td><\/td>300673<\/td>MECP2<\/td><\/td>300005<\/td>SEQ, MLPA, NGS<\/td>E<\/td>Syndro<\/td> <\/tr>\n
Epilepsy, female-restricted with mental retardation<\/td>EFMR, Juberg-Hellman syndrome<\/td>300088<\/td>PCDH19<\/td><\/td>300460<\/td>SEQ, MLPA, NGS<\/td>E<\/td>Epi<\/td> <\/tr>\n
Epileptic encephalopathy, early infantile, type 1<\/td>EIEE1, X-linked infantile spasm syndrome, ISSX, West syndrome<\/td>308350<\/td>ARX<\/td><\/td>300382<\/td>SEQ, MLPA, NGS<\/td>E<\/td>Epi<\/td> <\/tr>\n
Epileptic encephalopathy, early infantile, type 2<\/td>EIEE2<\/td>300672<\/td>CDKL5<\/td><\/td>300203<\/td>SEQ, MLPA, NGS<\/td>E<\/td>Epi<\/td> <\/tr>\n
Epileptic encephalopathy, early infantile, type 29<\/td>EIEE29<\/td>616339<\/td>AARS<\/td><\/td>601065<\/td>SEQ, NGS<\/td>E<\/td>Epi<\/td> <\/tr>\n
Epiphyseal dysplasia, multiple, 2<\/td>EDM2<\/td>600204<\/td>COL9A2<\/td><\/td>120260<\/td>SEQ, NGS<\/td>E<\/td>Tissue<\/td> <\/tr>\n
Episodic ataxia type 1<\/td>Episodic ataxia with myokymia<\/td>160120<\/td>KCNA1<\/td><\/td>176260<\/td>SEQ, MLPA, NGS<\/td>E<\/td>Neuro<\/td> <\/tr>\n
Episodic ataxia type 2<\/td>episodic ataxia with myokymia<\/td>108500<\/td>CACNA1A<\/td><\/td>601011<\/td>SEQ, MLPA, NGS<\/td>E<\/td>Neuro<\/td> <\/tr>\n
Episodic ataxia type 5<\/td>EA5<\/td>613855<\/td>CACNB4<\/td><\/td>601949<\/td>SEQ, NGS<\/td>E<\/td>Neuro<\/td> <\/tr>\n
Episodic ataxia type 6<\/td>EA6<\/td>612656<\/td>SLC1A3<\/td><\/td>600111<\/td>SEQ, NGS<\/td>E<\/td>Neuro<\/td> <\/tr>\n
Erythromelalgia, primary<\/td>erythermalgia<\/td>133020<\/td>SCN9A<\/td><\/td>603415<\/td>SEQ, NGS<\/td>E<\/td>Neuro<\/td> <\/tr>\n
Exostoses, multiple, type 1<\/td>multiple hereditary exostoses type 1<\/td>133700<\/td>EXT1<\/td><\/td>608177<\/td>SEQ, MLPA, NGS<\/td>E<\/td>Tissue<\/td> <\/tr>\n
Exostoses, multiple, type 2<\/td>multiple hereditary exostoses type 2<\/td>133701<\/td>EXT2<\/td><\/td>608210<\/td>SEQ, MLPA, NGS<\/td>E<\/td>Tissue<\/td> <\/tr>\n
Fabry disease<\/td><\/td>301500<\/td>GLA<\/td><\/td>300644<\/td>SEQ, MLPA, NGS<\/td>F<\/td>Meta<\/td> <\/tr>\n
Facial dysmorphism, immunodeficiency, livedo and short stature<\/td>FILS syndrome<\/td>615139<\/td>POLE<\/td><\/td>174762<\/td>SEQ, NGS<\/td>F<\/td>Syndro<\/td> <\/tr>\n
Factor II defect<\/td>Prothrombin<\/td>188050<\/td>F2 G20210A<\/td>Factor II<\/td>176930<\/td>SEQ<\/td>F<\/td>Coagul<\/td> <\/tr>\n
Factor IX deficiency<\/td>Hemophilia B, Christmas disease<\/td>306900<\/td>F9<\/td>Factor IX<\/td>300746<\/td>SEQ, MLPA, NGS<\/td>F<\/td>Coagul<\/td> <\/tr>\n
Factor V deficiency<\/td>Factor V Leiden mutation<\/td>188055<\/td>F5 FVL mutation<\/td>Factor V<\/td>612309<\/td>SEQ<\/td>F<\/td>Coagul<\/td> <\/tr>\n
Factor VII deficiency<\/td>Hypoproconvertinemia<\/td>227500<\/td>F7<\/td>Factor VII<\/td>613878<\/td>SEQ, MLPA, NGS<\/td>F<\/td>Coagul<\/td> <\/tr>\n
Factor XI deficiency<\/td>Hemophilia C, plasma thromboplastin antecedent<\/td>612416<\/td>F11<\/td><\/td>264900<\/td>SEQ, MLPA, NGS<\/td>F<\/td>Coagul<\/td> <\/tr>\n
Factor XII deficiency<\/td>Hageman factor deficiency<\/td>234000<\/td>F12<\/td><\/td>610619<\/td>SEQ, MLPA, NGS<\/td>F<\/td>Coagul<\/td> <\/tr>\n
Failure of tooth eruption, primary, nonsyndromic<\/td><\/td>125350<\/td>PTH1R<\/td><\/td>168468<\/td>SEQ, NGS<\/td>F<\/td>Tissue<\/td> <\/tr>\n
Familial adenomatous polyposis coli, familial polyposis of the colon<\/td>FAP<\/td>175100<\/td>APC<\/td><\/td>611731<\/td>SEQ, MLPA, NGS<\/td>F<\/td>Tumor<\/td> <\/tr>\n
Familial adenomatous polyposis coli, familial polyposis of the colon, type 3<\/td>FAP3<\/td>616415<\/td>NTHL1<\/td><\/td>602656<\/td>SEQ, NGS<\/td>F<\/td>Tumor<\/td> <\/tr>\n
Familial adenomatous polyposis coli, familial polyposis of the colon, type 4<\/td>FAP4<\/td>617100<\/td>MSH3<\/td><\/td>600887<\/td>SEQ, NGS<\/td>F<\/td>Tumor<\/td> <\/tr>\n
Familial atypical mole-malignant melanoma syndrome<\/td>FAMMM, cutaneous malignant melanoma-1, CMM1, familial melanoma, MLM<\/td>155600<\/td>CDK4 exon 2<\/td><\/td>123829<\/td>SEQ<\/td>F<\/td>Tumor<\/td> <\/tr>\n
Familial atypical mole-malignant melanoma syndrome<\/td>FAMMM, familial melanoma, MLM<\/td>155600<\/td>CDKN2A<\/td><\/td>600160<\/td>SEQ, MLPA, NGS<\/td>F<\/td>Tumor<\/td> <\/tr>\n
Familial breast cancer<\/td><\/td>114480<\/td>ATM<\/td><\/td>607585<\/td>SEQ, MLPA, NGS<\/td>F<\/td>Tumor<\/td> <\/tr>\n
Familial breast cancer<\/td><\/td>114480<\/td>CHEK2<\/td><\/td>604373<\/td>SEQ, MLPA, NGS<\/td>F<\/td>Tumor<\/td> <\/tr>\n
Familial breast-ovarian cancer type 1<\/td>HBOC1<\/td>604370<\/td>BRCA1<\/td><\/td>113705<\/td>SEQ, MLPA, NGS<\/td>F<\/td>Tumor<\/td> <\/tr>\n
Familial breast-ovarian cancer type 2<\/td>HBOC2<\/td>612555<\/td>BRCA2<\/td><\/td>600185<\/td>SEQ, MLPA, NGS<\/td>F<\/td>Tumor<\/td> <\/tr>\n
Familial breast-ovarian cancer type 3<\/td>HBOC3<\/td>613399<\/td>RAD51C<\/td>FANCO<\/td>602774<\/td>SEQ, MLPA, NGS<\/td>F<\/td>Tumor<\/td> <\/tr>\n
Familial breast-ovarian cancer type 4<\/td>HBOC4<\/td>614291<\/td>RAD51D<\/td><\/td>602954<\/td>SEQ, MLPA, NGS<\/td>F<\/td>Tumor<\/td> <\/tr>\n
Familial cold autoinflammatory syndrome<\/td>FCAS, cryopyrin-associated periodic syndrome 1, CAPS1<\/td>120100<\/td>NLRP3<\/td><\/td>606416<\/td>SEQ, NGS<\/td>F<\/td>Fever<\/td> <\/tr>\n
Familial gestational hyperthyroidism<\/td><\/td>603373<\/td>TSHR<\/td><\/td>603372<\/td>SEQ, MLPA, NGS<\/td>F<\/td>Meta<\/td> <\/tr>\n
Familial hemiplegic migraine type 1<\/td>FHM1<\/td>141500<\/td>CACNA1A<\/td><\/td>601011<\/td>SEQ, MLPA, NGS<\/td>F<\/td>Neuro<\/td> <\/tr>\n
Familial hemiplegic migraine type 2<\/td>FHM2<\/td>602481<\/td>ATP1A2<\/td><\/td>182340<\/td>SEQ, MLPA, NGS<\/td>F<\/td>Neuro<\/td> <\/tr>\n
Familial hemiplegic migraine type 3<\/td>FHM3<\/td>609634<\/td>SCN1A<\/td><\/td>182389<\/td>SEQ, MLPA, NGS<\/td>F<\/td>Neuro<\/td> <\/tr>\n
Familial mediterranean fever, dominant or recessive<\/td>FMF, autosomal dominant \/autosomal recessive<\/td>134610 \/ 249100<\/td>MEFV<\/td><\/td>608107<\/td>SEQ, MLPA, NGS<\/td>F<\/td>Fever<\/td> <\/tr>\n
Familial medullary thyroid carcinoma<\/td>FMTC<\/td>155240<\/td>RET<\/td><\/td>164761<\/td>SEQ, MLPA, NGS<\/td>F<\/td>Tumor<\/td> <\/tr>\n
Familial periodic fever<\/td>tumor necrosis factor receptor-associated periodic syndrome (TRAPS)<\/td>142680<\/td>TNFRSF1A<\/td><\/td>191190<\/td>SEQ, NGS<\/td>F<\/td>Fever<\/td> <\/tr>\n
Fatal familial insomnia<\/td>FFI<\/td>600072<\/td>PRNP<\/td><\/td>176640<\/td>SEQ, NGS<\/td>F<\/td>Neuro<\/td> <\/tr>\n
Fibrochondrogenesis type 1<\/td>FBCG1<\/td>228520<\/td>COL11A1<\/td><\/td>120280<\/td>SEQ, MLPA, NGS<\/td>F<\/td>Tissue<\/td> <\/tr>\n
Fibrochondrogenesis type 2<\/td>FBCG2<\/td>614524<\/td>COL11A2<\/td><\/td>120290<\/td>SEQ, NGS<\/td>F<\/td>Tissue<\/td> <\/tr>\n
Floating-Harbor syndrome<\/td>FHS<\/td>136140<\/td>SRCAP exon 30 to 34<\/td><\/td>611421<\/td>SEQ<\/td>F<\/td>Syndro<\/td> <\/tr>\n
Focal dermal hypoplasia<\/td>Goltz-Gorlin syndrome<\/td>305600<\/td>PORCN<\/td><\/td>300651<\/td>SEQ, NGS<\/td>F<\/td>Syndro<\/td> <\/tr>\n
Foveal hypoplasia<\/td>FVH1<\/td>136520<\/td>PAX6<\/td><\/td>607108<\/td>SEQ, MLPA, NGS<\/td>F<\/td>Sensory<\/td> <\/tr>\n
Frank-ter Haar syndrome<\/td>FTHS<\/td>249420<\/td>SH3PXD2B<\/td><\/td>613293<\/td>SEQ, NGS<\/td>F<\/td>Syndro<\/td> <\/tr>\n
Friedreich ataxia<\/td>Friedreich disease, FRDA<\/td>229300<\/td>FXN repeat<\/td><\/td>606829<\/td>REP<\/td>F<\/td>Neuro<\/td> <\/tr>\n
Frontotemporal dementia<\/td>FTD<\/td>600274<\/td>MAPT<\/td><\/td>157140<\/td>SEQ, MLPA, NGS<\/td>F<\/td>Neuro<\/td> <\/tr>\n
Frontotemporal dementia and\/or amyotrophic lateral sclerosis<\/td>FTDALS1<\/td>105550<\/td>C9orf72 repeat<\/td><\/td>614260<\/td>REP<\/td>F<\/td>Neuro<\/td> <\/tr>\n
Frontotemporal dementia type 3<\/td>FTD3<\/td>600795<\/td>CHMP2B<\/td><\/td>609512<\/td>SEQ, NGS<\/td>F<\/td>Neuro<\/td> <\/tr>\n
Frontotemporal dementia with parkinsonism<\/td>Multiple system tauopathy with presenile dementia, FTD17<\/td>600274<\/td>MAPT<\/td><\/td>157140<\/td>SEQ, MLPA, NGS<\/td>F<\/td>Neuro<\/td> <\/tr>\n
Frontotemporal dementia with TDP43 inclusions<\/td><\/td>612069<\/td>TARDBP<\/td>TDP43<\/td>605078<\/td>SEQ, NGS<\/td>F<\/td>Neuro<\/td> <\/tr>\n
Frontotemporal lobar degeneration with TDP43 inclusions<\/td>FTLD-TDP, Frontotemporal dementia, ubiquitin-positive, FTDU<\/td>607485<\/td>GRN<\/td>PGRN<\/td>138945<\/td>SEQ, MLPA, NGS<\/td>F<\/td>Neuro<\/td> <\/tr>\n
Fructose intolerance, hereditary<\/td>Fructosemia, aldolase B deficiency<\/td>229600<\/td>ALDOB<\/td><\/td>612724<\/td>SEQ, MLPA, NGS<\/td>F<\/td>Meta<\/td> <\/tr>\n
Fumarase deficiency<\/td>Fumaric aciduria<\/td>606812<\/td>FH<\/td><\/td>136850<\/td>SEQ, MLPA, NGS<\/td>F<\/td>Meta<\/td> <\/tr>\n
Galactosemia<\/td>GALAC1<\/td>230400<\/td>GALT<\/td><\/td>606999<\/td>SEQ, MLPA, NGS<\/td>G<\/td>Meta<\/td> <\/tr>\n
Generalized epilepsy with febrile seizures plus, type 1<\/td>GEFS+1<\/td>604233<\/td>SCN1B<\/td><\/td>600235<\/td>SEQ, NGS<\/td>G<\/td>Epi<\/td> <\/tr>\n
Generalized epilepsy with febrile seizures plus, type 2<\/td>GEFS+2<\/td>604403<\/td>SCN1A<\/td><\/td>182389<\/td>SEQ, MLPA, NGS<\/td>G<\/td>Epi<\/td> <\/tr>\n
Generalized epilepsy with febrile seizures plus, type 7<\/td>GEFS+7<\/td>613863<\/td>SCN9A<\/td><\/td>603415<\/td>SEQ, NGS<\/td>G<\/td>Epi<\/td> <\/tr>\n
Gerstmann-Str\u00e4ussler-Scheinker syndrome<\/td>GSSS<\/td>137440<\/td>PRNP<\/td><\/td>176640<\/td>SEQ, NGS<\/td>G<\/td>Neuro<\/td> <\/tr>\n
Gilbert syndrome<\/td><\/td>143500<\/td>UGT1A1<\/td>UGT1<\/td>191740<\/td>SEQ, NGS<\/td>G<\/td>Meta<\/td> <\/tr>\n
Gillespie syndrome<\/td>GLSP<\/td>206700<\/td>ITPR1<\/td><\/td>147265<\/td>SEQ, MLPA, NGS<\/td>G<\/td>Neuro<\/td> <\/tr>\n
Glass syndrome<\/td>SATB2-associated syndrome<\/td>612313<\/td>SATB2<\/td><\/td>608148<\/td>SEQ, MLPA, NGS<\/td>G<\/td>Syndro<\/td> <\/tr>\n
Glomerulocystic kidney disease with hyperuricemia and isosthenuria<\/td><\/td>609886<\/td>UMOD<\/td><\/td>191845<\/td>SEQ, NGS<\/td>G<\/td>Meta<\/td> <\/tr>\n
Glomuvenous malformations<\/td>glomangiomas<\/td>138000<\/td>GLMN<\/td><\/td>601749<\/td>SEQ, NGS<\/td>G<\/td>Tumor<\/td> <\/tr>\n
Glucose transport defect, blood-brain barrier<\/td>GLUT1-deficiency syndrome 1<\/td>606777<\/td>SLC2A1<\/td>GLUT1<\/td>138140<\/td>SEQ, MLPA, NGS<\/td>G<\/td>Neuro<\/td> <\/tr>\n
GLUT1 deficiency syndrome 1<\/td>GLUT1DS1<\/td>606777<\/td>SLC2A1<\/td>GLUT1<\/td>138140<\/td>SEQ, MLPA, NGS<\/td>G<\/td>Epi<\/td> <\/tr>\n
Glycine encephalopathy<\/td>GCE, Hyperglycinemia nonketotic (NKH)<\/td>605899<\/td>AMT<\/td>GCST<\/td>238310<\/td>SEQ, MLPA, NGS<\/td>G<\/td>Meta<\/td> <\/tr>\n
Glycogen storage disease IV<\/td>GSD4, Andersen disease<\/td>232500<\/td>GBE1<\/td><\/td>607839<\/td>SEQ, NGS<\/td>G<\/td>Meta<\/td> <\/tr>\n
Glycogen storage disease V<\/td>GSD5, McArdle disease<\/td>232600<\/td>PYGM<\/td><\/td>608455<\/td>SEQ, NGS<\/td>G<\/td>Meta<\/td> <\/tr>\n
Gnathodiaphyseal dysplasia<\/td>GDD<\/td>166260<\/td>ANO5<\/td><\/td>608662<\/td>SEQ, MLPA, NGS<\/td>G<\/td>Syndro<\/td> <\/tr>\n
Greig cephalopolysyndactyly syndrome<\/td>Polysyndactyly with peculiar skull shape<\/td>175700<\/td>GLI3<\/td><\/td>165240<\/td>SEQ, NGS<\/td>G<\/td>Syndro<\/td> <\/tr>\n
Gusher syndrome<\/td><\/td>304400<\/td>POU3F4<\/td><\/td>300039<\/td>SEQ, MLPA, NGS<\/td>G<\/td>Sensory<\/td> <\/tr>\n
Hailey-Hailey disease<\/td>Benign familial pemphigus, BCPM<\/td>169600<\/td>ATP2C1<\/td><\/td>604384<\/td>SEQ, NGS<\/td>H<\/td>Geno<\/td> <\/tr>\n
HARP syndrome<\/td>Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration<\/td>607236<\/td>PANK2<\/td><\/td>606157<\/td>SEQ, MLPA, NGS<\/td>H<\/td>Syndro<\/td> <\/tr>\n
Hartnup disorder<\/td>HND<\/td>234500<\/td>SLC6A19<\/td><\/td>608893<\/td>SEQ, NGS<\/td>H<\/td>Meta<\/td> <\/tr>\n
Hematuria, familial benign<\/td>Thin-basement-membrane nephropathy, TBMN<\/td>141200<\/td>COL4A3<\/td><\/td>120070<\/td>SEQ, MLPA, NGS<\/td>H<\/td>Kidney<\/td> <\/tr>\n
Hematuria, familial benign<\/td>Thin-basement-membrane nephropathy, TBMN<\/td>141200<\/td>COL4A3<\/td><\/td>120070<\/td>SEQ, MLPA, NGS<\/td>H<\/td>Syndro<\/td> <\/tr>\n
Hemochromatosis<\/td><\/td>235200<\/td>HFE exon 2 and exon 4<\/td><\/td>613609<\/td>SEQ<\/td>H<\/td>Meta<\/td> <\/tr>\n
Hennekam syndrome<\/td>Hennekam lymphangiectasia-lymphedema syndrome, HKLLS1<\/td>235510<\/td>CCBE1<\/td><\/td>612753<\/td>SEQ, NGS<\/td>H<\/td>Syndro<\/td> <\/tr>\n
Hereditary diffuse gastric cancer<\/td><\/td>137215<\/td>CDH1<\/td><\/td>192090<\/td>SEQ, MLPA, NGS<\/td>H<\/td>Tumor<\/td> <\/tr>\n
Hereditary endotheliopathy with retinopathy, nephropathy, and stroke<\/td>HERNS syndrome<\/td>192315<\/td>TREX1<\/td><\/td>606609<\/td>SEQ, MLPA, NGS<\/td>H<\/td>Syndro<\/td> <\/tr>\n
Hereditary leiomyomatosis and renal cell cancer<\/td>HLRCC<\/td>150800<\/td>FH<\/td><\/td>136850<\/td>SEQ, MLPA, NGS<\/td>H<\/td>Tumor<\/td> <\/tr>\n
Hereditary leiomyomatosis and renal cell cancer<\/td>HLRCC<\/td>150800<\/td>FH<\/td><\/td>136850<\/td>SEQ, MLPA, NGS<\/td>L<\/td>Kidney<\/td> <\/tr>\n
Hereditary mixed polyposis syndrome type 1<\/td>HMPS1<\/td>601228<\/td>GREM1 only CNV-analysis<\/td><\/td>603054<\/td>MLPA, NGS<\/td>H<\/td>Tumor<\/td> <\/tr>\n
Hereditary mixed polyposis syndrome type 2<\/td>HMPS2<\/td>610069<\/td>BMPR1A<\/td><\/td>601299<\/td>SEQ, MLPA, NGS<\/td>H<\/td>Tumor<\/td> <\/tr>\n
Hereditary motor neuropathy type VB, distal<\/td>HMN5B<\/td>614751<\/td>REEP1<\/td><\/td>609139<\/td>SEQ, MLPA, NGS<\/td>H<\/td>Neuro<\/td> <\/tr>\n
Hereditary neuralgic amyotrophy<\/td>HNA<\/td>162100<\/td>Sept.9<\/td><\/td>604061<\/td>SEQ, NGS<\/td>H<\/td>Neuro<\/td> <\/tr>\n
Hereditary nonpolyposis colorectal cancer type I<\/td>HNPCC, Lynch syndrome<\/td>120435<\/td>MSH2<\/td><\/td>609309<\/td>SEQ, MLPA, NGS<\/td>H<\/td>Tumor<\/td> <\/tr>\n
Hereditary nonpolyposis colorectal cancer type II<\/td>HNPCC, Lynch syndrome<\/td>609310<\/td>MLH1<\/td><\/td>120436<\/td>SEQ, MLPA, NGS<\/td>H<\/td>Tumor<\/td> <\/tr>\n
Hereditary nonpolyposis colorectal cancer type IV<\/td>HNPCC, Lynch syndrome<\/td>614337<\/td>PMS2<\/td><\/td>600259<\/td>SEQ, MLPA, NGS<\/td>H<\/td>Tumor<\/td> <\/tr>\n
Hereditary nonpolyposis colorectal cancer type V<\/td>HNPCC, Lynch syndrome<\/td>614350<\/td>MSH6<\/td><\/td>600678<\/td>SEQ, MLPA, NGS<\/td>H<\/td>Tumor<\/td> <\/tr>\n
Hereditary pancreatitis<\/td>PCTT<\/td>167800<\/td>CFTR<\/td><\/td>602421<\/td>SEQ, MLPA, NGS<\/td>H<\/td>Tumor<\/td> <\/tr>\n
Hereditary pancreatitis<\/td>PCTT<\/td>167800<\/td>CTRC<\/td><\/td>601405<\/td>SEQ, NGS<\/td>H<\/td>Tumor<\/td> <\/tr>\n
Hereditary pancreatitis<\/td>PCTT<\/td>167800<\/td>PRSS1<\/td><\/td>276000<\/td>SEQ, MLPA, NGS<\/td>H<\/td>Tumor<\/td> <\/tr>\n
Hereditary pancreatitis<\/td>PCTT<\/td>167800<\/td>SPINK1<\/td><\/td>167790<\/td>SEQ, MLPA, NGS<\/td>H<\/td>Tumor<\/td> <\/tr>\n
Hereditary persistence of fetal hemoglobin type 6<\/td>HBFQTL6<\/td>613566<\/td>KLF1<\/td><\/td>600599<\/td>SEQ, NGS<\/td>H<\/td>Coagul<\/td> <\/tr>\n
Hereditary, sensory and autonomic neuropathy type IA<\/td>HSAN1A, HSN1A<\/td>162400<\/td>SPTLC1<\/td><\/td>605712<\/td>SEQ, MLPA, NGS<\/td>H<\/td>Neuro<\/td> <\/tr>\n
Hereditay neuropathy with pressure palsies<\/td>HNPP, tomaculous neuropathy<\/td>162500<\/td>PMP22<\/td><\/td>601097<\/td>SEQ, MLPA, NGS<\/td>H<\/td>Neuro<\/td> <\/tr>\n
Hirschsprung disease type 1<\/td>HSCR1<\/td>142623<\/td>RET<\/td><\/td>164761<\/td>SEQ, MLPA, NGS<\/td>H<\/td>Syndro<\/td> <\/tr>\n
Hirschsprung disease type 2<\/td>HSCR2<\/td>600155<\/td>EDNRB<\/td><\/td>131244<\/td>SEQ, MLPA, NGS<\/td>H<\/td>Syndro<\/td> <\/tr>\n
Hirschsprung disease type 4<\/td>HSCR4<\/td>613712<\/td>EDN3<\/td><\/td>131242<\/td>SEQ, MLPA, NGS<\/td>H<\/td>Syndro<\/td> <\/tr>\n
Holt-Oram syndrome<\/td>HOS<\/td>142900<\/td>TBX5<\/td><\/td>601620<\/td>SEQ, MLPA, NGS<\/td>H<\/td>Syndro<\/td> <\/tr>\n
Homocystinuria due to MTHFR deficiency<\/td><\/td>236250<\/td>MTHFR c.677C>T and c.1298A>C<\/td><\/td>607093<\/td>SEQ<\/td>H<\/td>Coagul<\/td> <\/tr>\n
Huntington disease<\/td>HD, Huntington chorea<\/td>143100<\/td>HTT repeat<\/td><\/td>613004<\/td>REP<\/td>H<\/td>Neuro<\/td> <\/tr>\n
Huntington disease-like 1<\/td>HDL1<\/td>603218<\/td>PRNP<\/td><\/td>176640<\/td>SEQ, NGS<\/td>H<\/td>Neuro<\/td> <\/tr>\n
Huntington disease-like 2<\/td>HDL2<\/td>606438<\/td>JPH3 repeat<\/td><\/td>605268<\/td>REP<\/td>H<\/td>Neuro<\/td> <\/tr>\n
Huntington disease-like 4<\/td>HDL4<\/td>607136<\/td>TBP repeat<\/td><\/td>600075<\/td>REP<\/td>H<\/td>Neuro<\/td> <\/tr>\n
Hutchinson-Gilford progeria syndrome, childhood-onset<\/td><\/td>176670<\/td>LMNA<\/td><\/td>150330<\/td>SEQ, MLPA, NGS<\/td>H<\/td>Syndro<\/td> <\/tr>\n
Hydrocephalus, X-linked<\/td>Hydrocephalus due to congenital stenosis of aqueduct of sylvius<\/td>307000<\/td>L1CAM<\/td><\/td>308840<\/td>SEQ, MLPA, NGS<\/td>H<\/td>Syndro<\/td> <\/tr>\n
Hypercholesterolemia, familial, 3<\/td>FHCL3<\/td>603776<\/td>PCSK9<\/td><\/td>607786<\/td>SEQ, NGS<\/td>H<\/td>Meta<\/td> <\/tr>\n
Hypercholesterolemia, familial, type 1<\/td>FHCL1, Hyperlipoproteinemia, type IIA<\/td>143890<\/td>LDLR<\/td><\/td>606945<\/td>SEQ, MLPA, NGS<\/td>H<\/td>Meta<\/td> <\/tr>\n
Hypercholesterolemia, familial, type 2<\/td>FHCL2<\/td>144010<\/td>APOB p.R3527Q [R3500Q], p.R3558C [R3531C]<\/td><\/td>107730<\/td>SEQ<\/td>H<\/td>Meta<\/td> <\/tr>\n
Hypercholesterolemia, familial, type 4<\/td>FHCL4, autosomal recessive<\/td>603813<\/td>LDLRAP1<\/td><\/td>605747<\/td>SEQ, NGS<\/td>H<\/td>Meta<\/td> <\/tr>\n
Hyperferritinemia-cataract syndrome<\/td><\/td>600886<\/td>FTL<\/td><\/td>134790<\/td>SEQ, NGS<\/td>H<\/td>Meta<\/td> <\/tr>\n
Hyperferritinemia-cataract syndrome<\/td><\/td>600886<\/td>FTL<\/td><\/td>134790<\/td>SEQ, NGS<\/td>H<\/td>Sensory<\/td> <\/tr>\n
Hyperferritinemia-cataract syndrome<\/td><\/td>600886<\/td>FTL<\/td><\/td>134790<\/td>SEQ, NGS<\/td>H<\/td>Syndro<\/td> <\/tr>\n
Hyper-IgD syndrome<\/td>HIDS, hyperimmunoglobulinemia D and periodic fever, mevalonat kinase deficiency<\/td>260920<\/td>MVK<\/td><\/td>251170<\/td>SEQ, NGS<\/td>H<\/td>Fever<\/td> <\/tr>\n
Hyper-IgE recurrent infection syndrome, autosomal dominant<\/td>HIES, Job syndrome<\/td>147060<\/td>STAT3<\/td><\/td>102582<\/td>SEQ, MLPA, NGS<\/td>H<\/td>Meta<\/td> <\/tr>\n
Hyper-IgE syndrome with atypical mycobacteriosis, autosomal recessive<\/td>Immunodeficiency 35, tyrosine kinase 2 deficiency<\/td>611521<\/td>TYK2<\/td><\/td>176941<\/td>SEQ, NGS<\/td>H<\/td>Meta<\/td> <\/tr>\n
Hyper-IgE syndrome, autosomal recessive<\/td>Immunodeficiency 23<\/td>615816<\/td>PGM3<\/td><\/td>172100<\/td>SEQ, NGS<\/td>H<\/td>Meta<\/td> <\/tr>\n
Hyperinsulinemic hypoglycemia, familial, type 1<\/td>HHF1, hyperinsulinism, familial type 1<\/td>256450<\/td>ABCC8<\/td>SUR1<\/td>600509<\/td>SEQ, MLPA, NGS<\/td>H<\/td>Meta<\/td> <\/tr>\n
Hyperinsulinemic hypoglycemia, familial, type 2<\/td>HHF2, hyperinsulinism, familial type 2<\/td>601820<\/td>KCNJ11<\/td>Kir6.2<\/td>600937<\/td>SEQ, NGS<\/td>H<\/td>Meta<\/td> <\/tr>\n
Hyperinsulinemic hypoglycemia, familial, type 3<\/td>HHF3, hyperinsulinism, familial type 3<\/td>602485<\/td>GCK<\/td><\/td>138079<\/td>SEQ, MLPA, NGS<\/td>H<\/td>Meta<\/td> <\/tr>\n
Hyperinsulinemic hypoglycemia, familial, type 4<\/td>HHF4, hyperinsulinism, familial type 4<\/td>609975<\/td>HADH<\/td><\/td>601609<\/td>SEQ, NGS<\/td>H<\/td>Meta<\/td> <\/tr>\n
Hyperinsulinemic hypoglycemia, familial, type 6<\/td>HHF6, Hyperinsulinism-hyperammonemia syndrome<\/td>606762<\/td>GLUD1<\/td><\/td>138130<\/td>SEQ, NGS<\/td>H<\/td>Meta<\/td> <\/tr>\n
Hyperinsulinemic hypoglycemia, familial, type 6<\/td>HHF6, Hyperinsulinism-hyperammonemia syndrome<\/td>606762<\/td>GLUD1<\/td><\/td>138130<\/td>SEQ, NGS<\/td>H<\/td>Path<\/td> <\/tr>\n
Hyperkalemic periodic paralysis type 2<\/td>HYPP<\/td>170500<\/td>SCN4A<\/td><\/td>603967<\/td>SEQ, MLPA, NGS<\/td>H<\/td>Neuro<\/td> <\/tr>\n
Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome<\/td>HHH syndrome<\/td>238970<\/td>SLC25A15<\/td><\/td>603861<\/td>SEQ, NGS<\/td>H<\/td>Meta<\/td> <\/tr>\n
Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome<\/td>HHH syndrome<\/td>238970<\/td>SLC25A15<\/td><\/td>603861<\/td>SEQ, NGS<\/td>H<\/td>Path<\/td> <\/tr>\n
Hyperphosphatasia with mental retardation syndrome 1<\/td>Mabry syndrome<\/td>239300<\/td>PIGV<\/td><\/td>610274<\/td>SEQ, NGS<\/td>H<\/td>Syndro<\/td> <\/tr>\n
Hyperprolinemia, type I<\/td>HYRPRO1<\/td>239500<\/td>PRODH<\/td><\/td>606810<\/td>SEQ, NGS<\/td>H<\/td>Meta<\/td> <\/tr>\n
Hyperprolinemia, type II<\/td>HYRPRO2, P5CDH1-Defizienz<\/td>239510<\/td>ALDH4A1<\/td>P5CDH<\/td>606811<\/td>SEQ, NGS<\/td>H<\/td>Meta<\/td> <\/tr>\n
Hyperuricemic nephropathy, familial juvenile, 1<\/td>HNFJ1<\/td>162000<\/td>UMOD<\/td><\/td>191845<\/td>SEQ, NGS<\/td>H<\/td>Meta<\/td> <\/tr>\n
Hypochondroplasia<\/td>HCH<\/td>146000<\/td>FGFR3<\/td><\/td>134934<\/td>SEQ, MLPA, NGS<\/td>H<\/td>Tissue<\/td> <\/tr>\n
Hypodontia\/oligodontia type 1<\/td>Tooth agenesis, selective, with or without orofacial cleft, STHAG1<\/td>106600<\/td>MSX1<\/td><\/td>142983<\/td>SEQ, NGS<\/td>H<\/td>Syndro<\/td> <\/tr>\n
Hypogonadotropic hypogonadism with or without anosmia 12<\/td>HH12<\/td>614841<\/td>GNRH1<\/td><\/td>152760<\/td>SEQ, MLPA, NGS<\/td>H<\/td>Syndro<\/td> <\/tr>\n
Hypogonadotropic hypogonadism with or without anosmia 7<\/td>HH7, idiopathic hypogonadotropic hypogonadism<\/td>146110<\/td>GNRHR<\/td><\/td>138850<\/td>SEQ, MLPA, NGS<\/td>H<\/td>Syndro<\/td> <\/tr>\n
Hypogonadotropic hypogonadism with or without anosmia 8<\/td>HH8<\/td>614837<\/td>KISS1R<\/td><\/td>604161<\/td>SEQ, MLPA, NGS<\/td>H<\/td>Syndro<\/td> <\/tr>\n
Hypokalemic periodic paralysis type 1<\/td>HOKPP1<\/td>170400<\/td>CACNA1S<\/td><\/td>114208<\/td>SEQ, MLPA, NGS<\/td>H<\/td>Neuro<\/td> <\/tr>\n
Hypokalemic periodic paralysis type 2<\/td>HOKPP2<\/td>613345<\/td>SCN4A<\/td><\/td>603967<\/td>SEQ, MLPA, NGS<\/td>H<\/td>Neuro<\/td> <\/tr>\n
Hypophosphatasia, adult<\/td>HPPA<\/td>146300<\/td>ALPL<\/td><\/td>171760<\/td>SEQ, MLPA, NGS<\/td>H<\/td>Meta<\/td> <\/tr>\n
Hypophosphatasia, childhood<\/td>HPPC<\/td>241510<\/td>ALPL<\/td><\/td>171760<\/td>SEQ, MLPA, NGS<\/td>H<\/td>Meta<\/td> <\/tr>\n
Hypophosphatasia, infantile<\/td>HPPI<\/td>241500<\/td>ALPL<\/td><\/td>171760<\/td>SEQ, MLPA, NGS<\/td>H<\/td>Meta<\/td> <\/tr>\n
Idiopathic generalized epilepsy, susceptibility to, 9<\/td>EIG9<\/td>607682<\/td>CACNB4<\/td><\/td>601949<\/td>SEQ, NGS<\/td>I<\/td>Epi<\/td> <\/tr>\n
Immunodeficiency, common variable, type 1<\/td>CVID1, antibody deficiency due to icos defect<\/td>607594<\/td>ICOS<\/td><\/td>604558<\/td>SEQ, NGS<\/td>I<\/td>Meta<\/td> <\/tr>\n
Immunodeficiency, common variable, type 2<\/td>CVID2, antibody deficiency, hypogammaglobulinemia due to taci defect<\/td>240500<\/td>TNFRSF13B<\/td>TACI<\/td>604907<\/td>SEQ, NGS<\/td>I<\/td>Meta<\/td> <\/tr>\n
Immunoglobulin A deficiency type 2<\/td>IGAD2<\/td>609529<\/td>TNFRSF13B<\/td>TACI<\/td>604907<\/td>SEQ, NGS<\/td>I<\/td>Meta<\/td> <\/tr>\n
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia<\/td>IBMPFD1<\/td>167320<\/td>VCP<\/td><\/td>601023<\/td>SEQ, NGS<\/td>I<\/td>Neuro<\/td> <\/tr>\n
Infantile, familial convulsions with paroxysmal choreoathetosis<\/td>ICCA<\/td>602066<\/td>PRRT2<\/td><\/td>614386<\/td>SEQ, MLPA, NGS<\/td>I<\/td>Neuro<\/td> <\/tr>\n
Infantile-onset spinocerebellar ataxia, autosomal recessive<\/td><\/td>271245<\/td>TWNK<\/td>C10ORF2, TWINKLE<\/td>606075<\/td>SEQ, MLPA, NGS<\/td>I<\/td>Neuro<\/td> <\/tr>\n
Insensitivity to pain, congenital, autosomal recessive<\/td>congenital indifference to pain, autosomal recessive, CIP<\/td>243000<\/td>SCN9A<\/td><\/td>603415<\/td>SEQ, NGS<\/td>I<\/td>Neuro<\/td> <\/tr>\n
Intervertebral disc disease<\/td>IDD<\/td>603932<\/td>COL9A3 c.280C>T, c.307C>T<\/td><\/td>120270<\/td>SEQ<\/td>I<\/td>Tissue<\/td> <\/tr>\n
Intracardiac myxoma<\/td><\/td>255960<\/td>PRKAR1A<\/td><\/td>188830<\/td>SEQ, MLPA, NGS<\/td>I<\/td>Tumor<\/td> <\/tr>\n
Intractable childhood epilepsy with generalized tonic-clonic seizures<\/td>ICEGTC<\/td>607208<\/td>SCN1A<\/td><\/td>182389<\/td>SEQ, MLPA, NGS<\/td>I<\/td>Epi<\/td> <\/tr>\n
Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies<\/td>IMAGE syndrome<\/td>614732<\/td>CDKN1C<\/td>KIP2<\/td>600856<\/td>SEQ, MLPA, NGS<\/td>I<\/td>Syndro<\/td> <\/tr>\n
Iron-refractory iron deficiency anemia<\/td>IRIDA<\/td>206200<\/td>TMPRSS6<\/td><\/td>609862<\/td>SEQ, NGS<\/td>I<\/td>Meta<\/td> <\/tr>\n
IVIC syndrome<\/td><\/td>147750<\/td>SALL4<\/td><\/td>607343<\/td>SEQ, MLPA, NGS<\/td>I<\/td>Syndro<\/td> <\/tr>\n
Jackson-Weiss syndrome<\/td>Craniosynostosis, midfacial hypoplasia, and foot abnormalities<\/td>123150<\/td>FGFR1<\/td><\/td>136350<\/td>SEQ, MLPA, NGS<\/td>J<\/td>Syndro<\/td> <\/tr>\n
Jacobsen syndrome<\/td>chromosome 11q deletion syndrome<\/td>147791<\/td>del11q23<\/td><\/td><\/td>MLPA<\/td>J<\/td>Micro<\/td> <\/tr>\n
Jervell and Lange-Nielsen syndrome type 1<\/td>JLNS1, prolongation of the QT interval + congenital deafness<\/td>220400<\/td>KCNQ1<\/td><\/td>607542<\/td>SEQ, MLPA, NGS<\/td>J<\/td>Cardio<\/td> <\/tr>\n
Jervell and Lange-Nielsen syndrome type 2<\/td>JLNS2<\/td>612347<\/td>KCNE1<\/td><\/td>176261<\/td>SEQ, MLPA, NGS<\/td>J<\/td>Cardio<\/td> <\/tr>\n
Joubert syndrome type 10<\/td>JBTS10<\/td>300804<\/td>OFD1<\/td><\/td>300170<\/td>SEQ, NGS<\/td>J<\/td>Syndro<\/td> <\/tr>\n
Juvenile myoclonus epilepsy, susceptibility, 6<\/td>EJM6<\/td>607682<\/td>CACNB4<\/td><\/td>601949<\/td>SEQ, NGS<\/td>J<\/td>Epi<\/td> <\/tr>\n
Juvenile polyposis with hereditary hemorrhagic teleangiectasia syndrome<\/td>JP\/HHT<\/td>175050<\/td>SMAD4<\/td>MADH4<\/td>600993<\/td>SEQ, MLPA, NGS<\/td>J<\/td>Tumor<\/td> <\/tr>\n
Juvenile polyposis\/hereditary hemorrhagic telangiectasia syndrome<\/td>JP\/HHT<\/td>175050<\/td>SMAD4<\/td>MADH4<\/td>600993<\/td>SEQ, MLPA, NGS<\/td>J<\/td>Tissue<\/td> <\/tr>\n
Juvenile, intestinal polyposis<\/td>JIP<\/td>174900<\/td>BMPR1A<\/td><\/td>601299<\/td>SEQ, MLPA, NGS<\/td>J<\/td>Tumor<\/td> <\/tr>\n
Juvenile, intestinal polyposis<\/td>JIP<\/td>174900<\/td>SMAD4<\/td>MADH4<\/td>600993<\/td>SEQ, MLPA, NGS<\/td>J<\/td>Tumor<\/td> <\/tr>\n
Kallmann syndrome 1<\/td>Hypogonadotropic hypogonadism 1 with or without anosmia, HH1<\/td>308700<\/td>ANOS1<\/td>KAL1<\/td>300836<\/td>SEQ, MLPA, NGS<\/td>K<\/td>Syndro<\/td> <\/tr>\n
Kallmann syndrome 2<\/td>Hypogonadotropic hypogonadism 2 with or without anosmia<\/td>147950<\/td>FGFR1<\/td><\/td>136350<\/td>SEQ, MLPA, NGS<\/td>K<\/td>Syndro<\/td> <\/tr>\n
Kelley-Seegmiller syndrome<\/td>HPRT-related gout\/hyperuricemia<\/td>300323<\/td>HPRT1<\/td><\/td>308000<\/td>SEQ, MLPA, NGS<\/td>K<\/td>Meta<\/td> <\/tr>\n
Kleefstra syndrome<\/td><\/td>610253<\/td>EHMT1<\/td><\/td>607001<\/td>SEQ, MLPA, NGS<\/td>K<\/td>Syndro<\/td> <\/tr>\n
Klippel-Feil syndrome 1, autosomal dominant<\/td>KFS1<\/td>118100<\/td>GDF6<\/td><\/td>601147<\/td>SEQ, NGS<\/td>K<\/td>Syndro<\/td> <\/tr>\n
Klippel-Feil syndrome 2, autosomal recessive<\/td>KFS2<\/td>214300<\/td>MEOX1<\/td><\/td>600147<\/td>SEQ, NGS<\/td>K<\/td>Syndro<\/td> <\/tr>\n
Klippel-Feil syndrome 3, autosomal dominant<\/td>KFS3<\/td>613702<\/td>GDF3<\/td><\/td>606522<\/td>SEQ, NGS<\/td>K<\/td>Syndro<\/td> <\/tr>\n
Klippel-Trenaunay-Weber syndrome, predisposition<\/td>KTS<\/td>149000<\/td>AGGF1, mutation exon 3: c.397G>A, p.E133K [VG5Q]<\/td><\/td>608464<\/td>SEQ<\/td>K<\/td>Syndro<\/td> <\/tr>\n
Kniest dysplasia<\/td><\/td>156550<\/td>COL2A1<\/td><\/td>120140<\/td>SEQ, MLPA, NGS<\/td>K<\/td>Tissue<\/td> <\/tr>\n
Lactase deficiency, congenital<\/td>alactasia, congenital<\/td>223000<\/td>LCT complete gene<\/td><\/td>603202<\/td>SEQ, MLPA, NGS<\/td>L<\/td>Meta<\/td> <\/tr>\n
Lactose intolerance<\/td><\/td>223100<\/td>LCT c.1-13910T\/C<\/td><\/td>603202<\/td>SEQ<\/td>L<\/td>Meta<\/td> <\/tr>\n
Langer-Giedion syndrome<\/td>trichorhinophalangeal syndrome, type II<\/td>150230<\/td>del8q24.11-q24.13 (TRPS1, EXT1 genes)<\/td><\/td>604386, 608177<\/td>MLPA<\/td>L<\/td>Micro<\/td> <\/tr>\n
Laurence-Moon syndrome<\/td>LNMS<\/td>245800<\/td>PNPLA6<\/td><\/td>603197<\/td>SEQ, NGS<\/td>L<\/td>Neuro<\/td> <\/tr>\n
Leber congenital amaurosis type 17<\/td>LCA17<\/td>615360<\/td>GDF6<\/td><\/td>601147<\/td>SEQ, NGS<\/td>L<\/td>Sensory<\/td> <\/tr>\n
Leber congenital amaurosis type 18<\/td>LCA18<\/td>608133<\/td>PRPH2<\/td><\/td>179605<\/td>SEQ, MLPA, NGS<\/td>L<\/td>Sensory<\/td> <\/tr>\n
Leber hereditary optic neuropathy<\/td>LHON<\/td>535000<\/td>MT-ATP6<\/td><\/td>516060<\/td>SEQ, NGS<\/td>L<\/td>Sensory<\/td> <\/tr>\n
Leber hereditary optic neuropathy<\/td>LHON<\/td>535000<\/td>MT-ND1<\/td><\/td>516000<\/td>SEQ, NGS<\/td>L<\/td>Sensory<\/td> <\/tr>\n
Leber hereditary optic neuropathy<\/td>LHON<\/td>535000<\/td>MT-ND3<\/td><\/td>516002<\/td>SEQ, NGS<\/td>L<\/td>Sensory<\/td> <\/tr>\n
Leber hereditary optic neuropathy<\/td>LHON<\/td>535000<\/td>MT-ND4<\/td><\/td>516003<\/td>SEQ, NGS<\/td>L<\/td>Sensory<\/td> <\/tr>\n
Leber hereditary optic neuropathy<\/td>LHON<\/td>535000<\/td>MT-ND4L<\/td><\/td>516004<\/td>SEQ, NGS<\/td>L<\/td>Sensory<\/td> <\/tr>\n
Leber hereditary optic neuropathy<\/td>LHON<\/td>535000<\/td>MT-ND5<\/td><\/td>516005<\/td>SEQ, NGS<\/td>L<\/td>Sensory<\/td> <\/tr>\n
Leber hereditary optic neuropathy<\/td>LHON<\/td>535000<\/td>MT-ND6<\/td><\/td>516006<\/td>SEQ, NGS<\/td>L<\/td>Sensory<\/td> <\/tr>\n
Leber hereditary optic neuropathy<\/td>LHON<\/td>535000<\/td>MT-TL1<\/td><\/td>590050<\/td>SEQ, NGS<\/td>L<\/td>Sensory<\/td> <\/tr>\n
Legius syndrome<\/td>Neurofibromatosis type 1-like syndrome<\/td>611431<\/td>SPRED1<\/td><\/td>609291<\/td>SEQ, MLPA, NGS<\/td>L<\/td>Syndro<\/td> <\/tr>\n
Leigh syndrome<\/td><\/td>256000<\/td>MT-ATP6<\/td><\/td>516060<\/td>SEQ, NGS<\/td>L<\/td>Neuro<\/td> <\/tr>\n
Leigh syndrome<\/td><\/td>256000<\/td>MT-ND5<\/td><\/td>516005<\/td>SEQ, NGS<\/td>L<\/td>Neuro<\/td> <\/tr>\n
Leigh syndrome<\/td><\/td>256000<\/td>MT-ND6<\/td><\/td>516006<\/td>SEQ, NGS<\/td>L<\/td>Neuro<\/td> <\/tr>\n
Leigh syndrome<\/td><\/td>256000<\/td>SDHA<\/td><\/td>600857<\/td>SEQ, MLPA, NGS<\/td>L<\/td>Neuro<\/td> <\/tr>\n
LEOPARD syndrome 1<\/td><\/td>151100<\/td>PTPN11<\/td><\/td>176876<\/td>SEQ, NGS<\/td>L<\/td>Syndro<\/td> <\/tr>\n
LEOPARD syndrome 2<\/td><\/td>611554<\/td>RAF1<\/td><\/td>164760<\/td>SEQ, NGS<\/td>L<\/td>Syndro<\/td> <\/tr>\n
LEOPARD syndrome 3<\/td>LPRD3<\/td>613707<\/td>BRAF<\/td><\/td>164757<\/td>SEQ, NGS<\/td>L<\/td>Syndro<\/td> <\/tr>\n
Lesch-Nyhan syndrome<\/td><\/td>300322<\/td>HPRT1<\/td><\/td>308000<\/td>SEQ, MLPA, NGS<\/td>L<\/td>Meta<\/td> <\/tr>\n
Leukemia, acute lymphoblastic type 3, susceptibility<\/td>ALL3<\/td>615545<\/td>PAX5<\/td><\/td>167414<\/td>SEQ, NGS<\/td>L<\/td>Tumor<\/td> <\/tr>\n
Leukoencephalopathy with vanishing white matter<\/td>VWM<\/td>603896<\/td>EIF2B2<\/td><\/td>606454<\/td>SEQ, NGS<\/td>L<\/td>Neuro<\/td> <\/tr>\n
Leukoencephalopathy with vanishing white matter<\/td>VWM<\/td>603896<\/td>EIF2B5<\/td><\/td>603945<\/td>SEQ, NGS<\/td>L<\/td>Neuro<\/td> <\/tr>\n
Lewy-Body dementia<\/td>Lewy-Body variant of Alzheimer disease<\/td>127750<\/td>SNCA<\/td><\/td>163890<\/td>SEQ, MLPA, NGS<\/td>L<\/td>Neuro<\/td> <\/tr>\n
Lewy-Body dementia<\/td>Lewy-Body variant of Alzheimer disease<\/td>127750<\/td>SNCB<\/td><\/td>602569<\/td>SEQ, NGS<\/td>L<\/td>Neuro<\/td> <\/tr>\n
L-Ferritin deficiency<\/td>LFTD<\/td>615604<\/td>FTL<\/td><\/td>134790<\/td>SEQ, NGS<\/td>L<\/td>Meta<\/td> <\/tr>\n
Lhermitte-Duclos syndrome<\/td><\/td>158350<\/td>PTEN<\/td><\/td>601728<\/td>SEQ, MLPA, NGS<\/td>L<\/td>Tumor<\/td> <\/tr>\n
Li-Fraumeni syndrome 1<\/td>LFS1<\/td>151623<\/td>TP53<\/td><\/td>191170<\/td>SEQ, MLPA, NGS<\/td>L<\/td>Tumor<\/td> <\/tr>\n
Li-Fraumeni syndrome 2<\/td>LFS2<\/td>609265<\/td>CHEK2<\/td><\/td>604373<\/td>SEQ, MLPA, NGS<\/td>L<\/td>Tumor<\/td> <\/tr>\n
Limb-mammary syndrome<\/td><\/td>603543<\/td>TP63<\/td>p63, TP73L<\/td>603273<\/td>SEQ, NGS<\/td>L<\/td>Syndro<\/td> <\/tr>\n
Lipodystrophy, congenital generalized, type 1<\/td>CGL1, Berardinelli-Seip syndrome<\/td>608594<\/td>AGPAT2<\/td><\/td>603100<\/td>SEQ, NGS<\/td>L<\/td>Meta<\/td> <\/tr>\n
Lipodystrophy, congenital generalized, type 2<\/td>CGL2, Berardinelli-Seip syndrome<\/td>269700<\/td>BSCL2<\/td><\/td>606158<\/td>SEQ, NGS<\/td>B<\/td>Tissue<\/td> <\/tr>\n
Lipodystrophy, congenital generalized, type 2<\/td>CGL2, Berardinelli-Seip syndrome<\/td>269700<\/td>BSCL2<\/td><\/td>606158<\/td>SEQ, NGS<\/td>L<\/td>Meta<\/td> <\/tr>\n
Lipodystrophy, congenital generalized, type 3<\/td>CGL3, Berardinelli-Seip syndrome<\/td>612526<\/td>CAV1<\/td><\/td>601047<\/td>SEQ, NGS<\/td>L<\/td>Meta<\/td> <\/tr>\n
Lipodystrophy, familial partial, type 2<\/td>FPLD2, Lipodystrophy type Dunnigan<\/td>151660<\/td>LMNA<\/td><\/td>150330<\/td>SEQ, MLPA, NGS<\/td>L<\/td>Meta<\/td> <\/tr>\n
Lipodystrophy, familial partial, type 2<\/td>FPLD2, Lipodystrophy type Dunnigan<\/td>151660<\/td>LMNA<\/td><\/td>150330<\/td>SEQ, MLPA, NGS<\/td>L<\/td>Syndro<\/td> <\/tr>\n
Lipodystrophy, familial partial, type 3<\/td>FPLD3<\/td>604367<\/td>PPARG<\/td><\/td>601487<\/td>SEQ, MLPA, NGS<\/td>L<\/td>Meta<\/td> <\/tr>\n
Lipodystrophy, familial partial, type 4<\/td>FPLD4<\/td>613877<\/td>PLIN1<\/td><\/td>170290<\/td>SEQ, NGS<\/td>L<\/td>Meta<\/td> <\/tr>\n
Lipodystrophy, familial partial, type 5<\/td>FPLD5<\/td>615238<\/td>CIDEC<\/td><\/td>612120<\/td>SEQ, NGS<\/td>L<\/td>Meta<\/td> <\/tr>\n
Lipodystrophy, familial partial, type 7<\/td>FPLD7, lipodystrophy congenital cataracts, with or without neurodegeneration syndrome (LCCNS)<\/td>606721<\/td>CAV1<\/td><\/td>601047<\/td>SEQ, NGS<\/td>L<\/td>Meta<\/td> <\/tr>\n
Lipodystrophy, partial, acquired, susceptibility<\/td>APLD, Barraquer-Simons syndrome<\/td>608709<\/td>LMNB2<\/td><\/td>150341<\/td>SEQ, NGS<\/td>L<\/td>Meta<\/td> <\/tr>\n
Lissencephaly (X-linked) with ambiguous genitalia<\/td><\/td>300215<\/td>ARX<\/td><\/td>300382<\/td>SEQ, MLPA, NGS<\/td>L<\/td>Syndro<\/td> <\/tr>\n
Lissencephaly type 1<\/td>LIS1<\/td>607432<\/td>PAFAH1B1<\/td>LIS1<\/td>601545<\/td>SEQ, MLPA, NGS<\/td>L<\/td>Syndro<\/td> <\/tr>\n
Lissencephaly type 3<\/td>LIS3<\/td>611603<\/td>TUBA1A<\/td><\/td>602529<\/td>SEQ, NGS<\/td>L<\/td>Syndro<\/td> <\/tr>\n
Lissencephaly, X-linked<\/td>LISX1<\/td>300067<\/td>DCX<\/td><\/td>300121<\/td>SEQ, MLPA, NGS<\/td>L<\/td>Syndro<\/td> <\/tr>\n
Loeys-Dietz syndrome type 1<\/td>LDS1, Furlong syndrome<\/td>609192<\/td>TGFBR1<\/td><\/td>190181<\/td>SEQ, MLPA, NGS<\/td>L<\/td>Tissue<\/td> <\/tr>\n
Loeys-Dietz syndrome type 2<\/td>LDS2<\/td>610168<\/td>TGFBR2<\/td><\/td>190182<\/td>SEQ, MLPA, NGS<\/td>L<\/td>Tissue<\/td> <\/tr>\n
Loeys-Dietz syndrome type 3<\/td>LDS3, aneurysms-osteoarthritis syndrome<\/td>613795<\/td>SMAD3<\/td><\/td>603109<\/td>SEQ, NGS<\/td>L<\/td>Tissue<\/td> <\/tr>\n
Loeys-Dietz syndrome type 4<\/td>LDS4<\/td>614816<\/td>TGFB2<\/td><\/td>190220<\/td>SEQ, NGS<\/td>L<\/td>Tissue<\/td> <\/tr>\n
Loeys-Dietz syndrome type 5<\/td>LDS5<\/td>615582<\/td>TGFB3<\/td><\/td>190230<\/td>SEQ, MLPA, NGS<\/td>L<\/td>Tissue<\/td> <\/tr>\n
Long QT syndrome 1<\/td>LQT1, Romano-Ward syndrome 1<\/td>192500<\/td>KCNQ1<\/td><\/td>607542<\/td>SEQ, MLPA, NGS<\/td>L<\/td>Cardio<\/td> <\/tr>\n
Long QT syndrome 16<\/td>LQT16<\/td>618782<\/td>CALM3<\/td><\/td>114183<\/td>SEQ, NGS<\/td>L<\/td>Cardio<\/td> <\/tr>\n
Long QT syndrome 2<\/td>LQT2, Romano-Ward syndrome 2<\/td>613688<\/td>KCNH2<\/td><\/td>152427<\/td>SEQ, MLPA, NGS<\/td>L<\/td>Cardio<\/td> <\/tr>\n
Long QT syndrome 3<\/td>LQT3, Romano-Ward syndrome 3<\/td>603830<\/td>SCN5A<\/td><\/td>600163<\/td>SEQ, MLPA, NGS<\/td>L<\/td>Cardio<\/td> <\/tr>\n
Long QT syndrome 5<\/td>LQT5<\/td>613695<\/td>KCNE1<\/td><\/td>176261<\/td>SEQ, MLPA, NGS<\/td>L<\/td>Cardio<\/td> <\/tr>\n
Long QT syndrome 6<\/td>LQT6<\/td>613693<\/td>KCNE2<\/td><\/td>603796<\/td>SEQ, MLPA, NGS<\/td>L<\/td>Cardio<\/td> <\/tr>\n
Long QT syndrome 7<\/td>LQT7, Anderson-Tawil syndrome<\/td>170390<\/td>KCNJ2<\/td><\/td>600681<\/td>SEQ, MLPA, NGS<\/td>L<\/td>Cardio<\/td> <\/tr>\n
Long QT syndrome 9<\/td>LQT9<\/td>611818<\/td>CAV3<\/td><\/td>601253<\/td>SEQ, MLPA, NGS<\/td>L<\/td>Cardio<\/td> <\/tr>\n
Lowe syndrome<\/td>Oculocerebrorenal syndrome<\/td>309000<\/td>OCRL<\/td><\/td>300535<\/td>SEQ, NGS<\/td>L<\/td>Syndro<\/td> <\/tr>\n
Makrozephalie-Makrosomie-Faziale Dysmorphie-Syndrom<\/td>Chromosome 17q11.2 deletion syndrome<\/td>613675<\/td>RNF135<\/td><\/td><\/td>SEQ, NGS<\/td>M<\/td>Syndro<\/td> <\/tr>\n
Malignant hyperthermia susceptibility 5<\/td>MHS5<\/td>601887<\/td>CACNA1S<\/td><\/td>114208<\/td>SEQ, MLPA, NGS<\/td>M<\/td>Meta<\/td> <\/tr>\n
Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome<\/td>MDPL<\/td>615381<\/td>POLD1<\/td><\/td>174761<\/td>SEQ, NGS<\/td>M<\/td>Syndro<\/td> <\/tr>\n
Mandibuloacral dysplasia with type a lipodystrophy<\/td>MADA<\/td>248370<\/td>LMNA<\/td><\/td>150330<\/td>SEQ, MLPA, NGS<\/td>M<\/td>Syndro<\/td> <\/tr>\n
Marfan syndrome<\/td>MFS, MFS1<\/td>154700<\/td>FBN1<\/td><\/td>134797<\/td>SEQ, MLPA, NGS<\/td>M<\/td>Tissue<\/td> <\/tr>\n
Marinesco-Sjorgren syndrome<\/td>MSS<\/td>248800<\/td>SIL1<\/td><\/td>608005<\/td>SEQ, NGS<\/td>M<\/td>Neuro<\/td> <\/tr>\n
Marshall syndrome<\/td>MRSHS<\/td>154780<\/td>COL11A1<\/td><\/td>120280<\/td>SEQ, MLPA, NGS<\/td>M<\/td>Tissue<\/td> <\/tr>\n
Maturity-onset diabetes of the young, type 1<\/td>MODY1<\/td>125850<\/td>HNF4A<\/td><\/td>600281<\/td>SEQ, MLPA, NGS<\/td>M<\/td>Meta<\/td> <\/tr>\n
Maturity-onset diabetes of the young, type 2<\/td>MODY2<\/td>125851<\/td>GCK<\/td><\/td>138079<\/td>SEQ, MLPA, NGS<\/td>M<\/td>Meta<\/td> <\/tr>\n
Maturity-onset diabetes of the young, type 3<\/td>MODY3<\/td>600496<\/td>HNF1A<\/td>TCF1<\/td>142410<\/td>SEQ, MLPA, NGS<\/td>M<\/td>Meta<\/td> <\/tr>\n
Maturity-onset diabetes of the young, type 4<\/td>MODY4<\/td>606392<\/td>PDX1<\/td>IPF1<\/td>600733<\/td>SEQ, MLPA, NGS<\/td>M<\/td>Meta<\/td> <\/tr>\n
Maturity-onset diabetes of the young, type 5<\/td>MODY5<\/td>137920<\/td>HNF1B<\/td>TCF2<\/td>189907<\/td>SEQ, MLPA, NGS<\/td>M<\/td>Meta<\/td> <\/tr>\n
McLeod syndrome<\/td>MCLDS<\/td>300842<\/td>XK<\/td><\/td>314850<\/td>SEQ, NGS<\/td>M<\/td>Neuro<\/td> <\/tr>\n
Medullary cystic kidney disease 2<\/td>MCKD2<\/td>603860<\/td>UMOD<\/td><\/td>191845<\/td>SEQ, NGS<\/td>M<\/td>Meta<\/td> <\/tr>\n
Medulloblastoma, desmoplastic<\/td><\/td>155255<\/td>SUFU<\/td><\/td>607035<\/td>SEQ, MLPA, NGS<\/td>M<\/td>Tumor<\/td> <\/tr>\n
Melanoma-pancreatic cancer syndrome, familial<\/td>MPCS, Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome FAMMM-PC<\/td>606719<\/td>CDK4 exon 2<\/td><\/td>123829<\/td>SEQ<\/td>M<\/td>Tumor<\/td> <\/tr>\n
Melanoma-pancreatic cancer syndrome, familial<\/td>MPCS, Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome FAMMM-PC<\/td>606719<\/td>CDKN2A<\/td><\/td>600160<\/td>SEQ, MLPA, NGS<\/td>M<\/td>Tumor<\/td> <\/tr>\n
Mental retardation, aphasia, shuffling gait, and adducted thumbs<\/td>MASA syndrome<\/td>303350<\/td>L1CAM<\/td><\/td>308840<\/td>SEQ, MLPA, NGS<\/td>M<\/td>Syndro<\/td> <\/tr>\n
Mental retardation, X-linked 19<\/td>MRX19<\/td>300844<\/td>RPS6KA3<\/td><\/td>300075<\/td>SEQ, MLPA, NGS<\/td>M<\/td>Syndro<\/td> <\/tr>\n
Mental retardation, X-linked syndromic, Lubs type<\/td>MRXSL<\/td>300260<\/td>MECP2<\/td><\/td>300005<\/td>SEQ, MLPA, NGS<\/td>M<\/td>Syndro<\/td> <\/tr>\n
Mental retardation, X-linked, syndromic 13<\/td>MRX13<\/td>300055<\/td>MECP2<\/td><\/td>300005<\/td>SEQ, MLPA, NGS<\/td>M<\/td>Syndro<\/td> <\/tr>\n
Metachondromatosis<\/td><\/td>156250<\/td>PTPN11<\/td><\/td>176876<\/td>SEQ, NGS<\/td>M<\/td>Tissue<\/td> <\/tr>\n
Metachromatic leukodystrophy<\/td>Arylsulfatase A deficiency, diffuse cerebral sclerosis<\/td>250100<\/td>ARSA<\/td><\/td>607574<\/td>SEQ, NGS<\/td>M<\/td>Meta<\/td> <\/tr>\n
Metachromatic leukodystrophy due to saposin B deficiency<\/td>Saposin B deficiency<\/td>249900<\/td>PSAP<\/td><\/td>176801<\/td>SEQ, NGS<\/td>M<\/td>Meta<\/td> <\/tr>\n
Metaphyseal chondrodysplasia, Murk Jansen type<\/td><\/td>156400<\/td>PTH1R<\/td><\/td>168468<\/td>SEQ, NGS<\/td>M<\/td>Tissue<\/td> <\/tr>\n
Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly<\/td>MDMHB<\/td>156510<\/td>RUNX2<\/td><\/td>600211<\/td>SEQ, MLPA, NGS<\/td>M<\/td>Tissue<\/td> <\/tr>\n
Metatropic dysplasia<\/td>Metatropic dwarfism<\/td>156530<\/td>TRPV4<\/td><\/td>605427<\/td>SEQ, NGS<\/td>M<\/td>Tissue<\/td> <\/tr>\n
Methemoglobinemia type 4<\/td><\/td>250790<\/td>CYB5A<\/td><\/td>613218<\/td>SEQ, NGS<\/td>M<\/td>Coagul<\/td> <\/tr>\n
Methemoglobinemia, type 1 and 2<\/td>Methemoglobinemia due to deficiency of methemoglobin reductase<\/td>250800<\/td>CYB5R3<\/td><\/td>613213<\/td>SEQ, NGS<\/td>M<\/td>Coagul<\/td> <\/tr>\n
Methionine adenosyltransferase deficiency<\/td>Hypermethioninemia<\/td>250850<\/td>MAT1A<\/td><\/td>610550<\/td>SEQ, NGS<\/td>M<\/td>Meta<\/td> <\/tr>\n
Methylenetetrahydrofolate reductase deficiency<\/td>Homocystinuria due to MTHFR deficiency<\/td>236250<\/td>MTHFR<\/td><\/td>607093<\/td>SEQ, NGS<\/td>M<\/td>Meta<\/td> <\/tr>\n
Mevalonic aciduria<\/td>MEVA<\/td>610377<\/td>MVK<\/td><\/td>251170<\/td>SEQ, NGS<\/td>M<\/td>Meta<\/td> <\/tr>\n
Microcephaly and chorioretinopathy, autosomal recessive<\/td><\/td>251270<\/td>TUBGCP6<\/td><\/td>610053<\/td>SEQ, NGS<\/td>M<\/td>Syndro<\/td> <\/tr>\n
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation<\/td>MCLMR<\/td>152950<\/td>KIF11<\/td><\/td>148760<\/td>SEQ, NGS<\/td>M<\/td>Syndro<\/td> <\/tr>\n
Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma<\/td>MRCS<\/td>193220<\/td>BEST1<\/td><\/td>607854<\/td>SEQ, MLPA, NGS<\/td>M<\/td>Sensory<\/td> <\/tr>\n
Microphthalmia with coloboma 6<\/td>MCOPCB6<\/td>613703<\/td>GDF3<\/td><\/td>606522<\/td>SEQ, NGS<\/td>M<\/td>Syndro<\/td> <\/tr>\n
Microphthalmia, isolated 4<\/td>MCOP4<\/td>613094<\/td>GDF6<\/td><\/td>601147<\/td>SEQ, NGS<\/td>M<\/td>Syndro<\/td> <\/tr>\n
Microphthalmia, isolated 7<\/td>MCOP7<\/td>613704<\/td>GDF3<\/td><\/td>606522<\/td>SEQ, NGS<\/td>M<\/td>Syndro<\/td> <\/tr>\n
Microphthalmia, syndromic<\/td>MCOPS3, optic nerve hypoplasia and abnormalities of the central nervous system<\/td>206900<\/td>SOX2<\/td><\/td>184429<\/td>SEQ, MLPA, NGS<\/td>M<\/td>Syndro<\/td> <\/tr>\n
Miller-Dieker lissencephaly syndrome<\/td>MDLS<\/td>247200<\/td>del17p13.3 (LIS1 gene)<\/td><\/td><\/td>MLPA<\/td>M<\/td>Micro<\/td> <\/tr>\n
Mitochondrial complex II deficiency<\/td><\/td>252011<\/td>SDHA<\/td><\/td>600857<\/td>SEQ, MLPA, NGS<\/td>M<\/td>Neuro<\/td> <\/tr>\n
Mitochondrial DNA depletion syndrome type 1<\/td>MNGIE, Mitochondrial neurogastrointestinal encephalopathy syndrome, MTDPS1<\/td>603041<\/td>TYMP<\/td>ECGF1<\/td>131222<\/td>SEQ, NGS<\/td>M<\/td>Neuro<\/td> <\/tr>\n
Mitochondrial DNA depletion syndrome type 12, cardiomyopathic type<\/td>MTDPS12<\/td>615418<\/td>SLC25A4<\/td><\/td>103220<\/td>SEQ, MLPA, NGS<\/td>M<\/td>Neuro<\/td> <\/tr>\n
Mitochondrial DNA depletion syndrome type 4A<\/td>MTDPS4A, Alpers syndrome<\/td>203700<\/td>POLG<\/td>POLG1<\/td>174763<\/td>SEQ, MLPA, NGS<\/td>M<\/td>Neuro<\/td> <\/tr>\n
Mitochondrial DNA depletion syndrome type 4B<\/td>MTDPS4B, Mitochondrial neurogastrointestinal encephalopathy syndrome, MNGIE<\/td>613662<\/td>POLG<\/td>POLG1<\/td>174763<\/td>SEQ, MLPA, NGS<\/td>M<\/td>Neuro<\/td> <\/tr>\n
Mitochondrial DNA depletion syndrome type 5<\/td>MTDPS5<\/td>612073<\/td>SUCLA2<\/td><\/td>603921<\/td>SEQ, MLPA, NGS<\/td>M<\/td>Neuro<\/td> <\/tr>\n
Mitochondrial DNA depletion syndrome type 7, hepatocerebral type<\/td>MTDPS7<\/td>271245<\/td>TWNK<\/td>C10ORF2, TWINKLE<\/td>606075<\/td>SEQ, MLPA, NGS<\/td>M<\/td>Neuro<\/td> <\/tr>\n
Mitochondrial DNA depletion syndrome type 8A<\/td>MTDPS8A<\/td>612075<\/td>RRM2B<\/td><\/td>604712<\/td>SEQ, MLPA, NGS<\/td>M<\/td>Neuro<\/td> <\/tr>\n
Mitochondrial DNA depletion syndrome type 8B<\/td>MNGIE , mitochondrial neurogastrointestinal encephalopathy syndrome, MTDPS8B<\/td>612075<\/td>RRM2B<\/td><\/td>604712<\/td>SEQ, MLPA, NGS<\/td>M<\/td>Neuro<\/td> <\/tr>\n
Mitochondrial DNA depletion syndrome type 9<\/td>MTDPS9<\/td>245400<\/td>SUCLG1<\/td><\/td>611224<\/td>SEQ, MLPA, NGS<\/td>M<\/td>Neuro<\/td> <\/tr>\n
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes<\/td>MELAS<\/td>540000<\/td>MT-ND1<\/td><\/td>516000<\/td>SEQ, NGS<\/td>M<\/td>Neuro<\/td> <\/tr>\n
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes<\/td>MELAS<\/td>540000<\/td>MT-ND5<\/td><\/td>516005<\/td>SEQ, NGS<\/td>M<\/td>Neuro<\/td> <\/tr>\n
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes<\/td>MELAS<\/td>540000<\/td>MT-ND6<\/td><\/td>516006<\/td>SEQ, NGS<\/td>M<\/td>Neuro<\/td> <\/tr>\n
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes<\/td>MELAS<\/td>540000<\/td>MT-TH<\/td><\/td>590040<\/td>SEQ, NGS<\/td>M<\/td>Neuro<\/td> <\/tr>\n
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes<\/td>MELAS<\/td>540000<\/td>MT-TK<\/td><\/td>590060<\/td>SEQ, NGS<\/td>M<\/td>Neuro<\/td> <\/tr>\n
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes<\/td>MELAS<\/td>540000<\/td>MT-TL1<\/td><\/td>590050<\/td>SEQ, NGS<\/td>M<\/td>Neuro<\/td> <\/tr>\n
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes<\/td>MELAS<\/td>540000<\/td>MT-TS2<\/td><\/td>590085<\/td>SEQ, NGS<\/td>M<\/td>Neuro<\/td> <\/tr>\n
Mitochondrial trifunctional protein deficiency<\/td>MTPD<\/td>609015<\/td>HADHA<\/td><\/td>600890<\/td>SEQ, NGS<\/td>M<\/td>Meta<\/td> <\/tr>\n
Miyoshi muscular dystrophy 1<\/td>MMD1<\/td>254130<\/td>DYSF<\/td><\/td>603009<\/td>SEQ, MLPA, NGS<\/td>M<\/td>Neuro<\/td> <\/tr>\n
Miyoshi muscular dystrophy 3<\/td>MMD3<\/td>613319<\/td>ANO5<\/td><\/td>608662<\/td>SEQ, MLPA, NGS<\/td>M<\/td>Neuro<\/td> <\/tr>\n
Muckle-Wells syndrome<\/td>MWS, cryopyrin-associated periodic syndrome 2, CAPS2<\/td>191900<\/td>NLRP3<\/td><\/td>606416<\/td>SEQ, NGS<\/td>M<\/td>Fever<\/td> <\/tr>\n
Mucopolysaccharidosis type IH, Hurler syndrome<\/td>MPS1-H<\/td>607014<\/td>IDUA<\/td><\/td>252800<\/td>SEQ, NGS<\/td>M<\/td>Meta<\/td> <\/tr>\n
Mucopolysaccharidosis type IH\/S, Hurler-Scheie syndrome<\/td>MPS1-H\/S<\/td>607015<\/td>IDUA<\/td><\/td>252800<\/td>SEQ, NGS<\/td>M<\/td>Meta<\/td> <\/tr>\n
Mucopolysaccharidosis type IIIB, Sanfilippo syndrome B<\/td>MPS IIIB<\/td>252920<\/td>NAGLU<\/td><\/td>609701<\/td>SEQ, NGS<\/td>M<\/td>Meta<\/td> <\/tr>\n
Mucopolysaccharidosis type IIIC, Sanfilippo syndrome C<\/td>MPS IIIC<\/td>252930<\/td>HGSNAT<\/td><\/td>610453<\/td>SEQ, NGS<\/td>M<\/td>Meta<\/td> <\/tr>\n
Mucopolysaccharidosis type IIID, Sanfilippo syndrome D<\/td>MPS IIID<\/td>252940<\/td>GNS<\/td><\/td>607664<\/td>SEQ, NGS<\/td>M<\/td>Meta<\/td> <\/tr>\n
Mucopolysaccharidosis type IS, Scheie syndrome<\/td>MPS1-S<\/td>607016<\/td>IDUA<\/td><\/td>252800<\/td>SEQ, NGS<\/td>M<\/td>Meta<\/td> <\/tr>\n
Muenke syndrome<\/td>MNKES<\/td>602849<\/td>FGFR3 mutation p.Pro250Arg<\/td><\/td>134934<\/td>SEQ<\/td>M<\/td>Syndro<\/td> <\/tr>\n
Multiple endocrine neoplasia type 1<\/td>MEN1<\/td>131100<\/td>MEN1<\/td><\/td>613733<\/td>SEQ, MLPA, NGS<\/td>M<\/td>Tumor<\/td> <\/tr>\n
Multiple endocrine neoplasia type 2 A<\/td>MEN2A<\/td>171400<\/td>RET<\/td><\/td>164761<\/td>SEQ, MLPA, NGS<\/td>M<\/td>Tumor<\/td> <\/tr>\n
Multiple endocrine neoplasia type 2 B<\/td>MEN2B<\/td>162300<\/td>RET<\/td><\/td>164761<\/td>SEQ, MLPA, NGS<\/td>M<\/td>Tumor<\/td> <\/tr>\n
Multiple endocrine neoplasia type 4<\/td>MEN4<\/td>610755<\/td>CDKN1B<\/td><\/td>600778<\/td>SEQ, MLPA, NGS<\/td>M<\/td>Tumor<\/td> <\/tr>\n
Multiple system atrophy<\/td>MSA<\/td>146500<\/td>SNCA rs11931074<\/td><\/td>163890<\/td>SEQ<\/td>M<\/td>Neuro<\/td> <\/tr>\n
Muscular dystrophy, congenital, 1C<\/td>MDC1C<\/td>606612<\/td>FKRP<\/td><\/td>606596<\/td>SEQ, MLPA, NGS<\/td>M<\/td>Neuro<\/td> <\/tr>\n
Muscular dystrophy, limb-girdle, type 1B<\/td>LGMD1B<\/td>159001<\/td>LMNA<\/td><\/td>150330<\/td>SEQ, MLPA, NGS<\/td>M<\/td>Neuro<\/td> <\/tr>\n
Muscular dystrophy, limb-girdle, type 1C<\/td>LGMD1C<\/td>607801<\/td>CAV3<\/td><\/td>601253<\/td>SEQ, MLPA, NGS<\/td>M<\/td>Neuro<\/td> <\/tr>\n
Muscular dystrophy, limb-girdle, type 2A<\/td>LGMD2A<\/td>253600<\/td>CAPN3<\/td><\/td>114240<\/td>SEQ, MLPA, NGS<\/td>M<\/td>Neuro<\/td> <\/tr>\n
Muscular dystrophy, limb-girdle, type 2B<\/td>LGMD2B<\/td>253601<\/td>DYSF<\/td><\/td>603009<\/td>SEQ, MLPA, NGS<\/td>M<\/td>Neuro<\/td> <\/tr>\n
Muscular dystrophy, limb-girdle, type 2I<\/td>LGMD2I<\/td>607155<\/td>FKRP<\/td><\/td>606596<\/td>SEQ, MLPA, NGS<\/td>M<\/td>Neuro<\/td> <\/tr>\n
Muscular dystrophy, limb-girdle, type 2L<\/td>LGMD2L<\/td>611307<\/td>ANO5<\/td><\/td>608662<\/td>SEQ, MLPA, NGS<\/td>M<\/td>Neuro<\/td> <\/tr>\n
MUTYH-associated polyposis<\/td>MAP<\/td>608456<\/td>MUTYH<\/td><\/td>604933<\/td>SEQ, MLPA, NGS<\/td>M<\/td>Tumor<\/td> <\/tr>\n
Myoclonic epilepsy associated with ragged-red fibers<\/td>MERRF<\/td>545000<\/td>MT-ND5<\/td><\/td>516005<\/td>SEQ, NGS<\/td>M<\/td>Neuro<\/td> <\/tr>\n
Myoclonic epilepsy associated with ragged-red fibers<\/td>MERRF<\/td>545000<\/td>MT-TH<\/td><\/td>590040<\/td>SEQ, NGS<\/td>M<\/td>Neuro<\/td> <\/tr>\n
Myoclonic epilepsy associated with ragged-red fibers<\/td>MERRF<\/td>545000<\/td>MT-TK<\/td><\/td>590060<\/td>SEQ, NGS<\/td>M<\/td>Neuro<\/td> <\/tr>\n
Myoclonic epilepsy associated with ragged-red fibers<\/td>MERRF<\/td>545000<\/td>MT-TL1<\/td><\/td>590050<\/td>SEQ, NGS<\/td>M<\/td>Neuro<\/td> <\/tr>\n
Myoclonic epilepsy associated with ragged-red fibers<\/td>MERRF<\/td>545000<\/td>MT-TS2<\/td><\/td>590085<\/td>SEQ, NGS<\/td>M<\/td>Neuro<\/td> <\/tr>\n
Myofibromatose, infantile, type 1<\/td>IMF1<\/td>228550<\/td>PDGFRB<\/td><\/td>173410<\/td>SEQ, NGS<\/td>M<\/td>Neuro<\/td> <\/tr>\n
Myofibromatose, infantile, type 2<\/td>IMF2<\/td>615293<\/td>NOTCH3<\/td><\/td>600276<\/td>SEQ, MLPA, NGS<\/td>M<\/td>Neuro<\/td> <\/tr>\n
Myopathy, distal, Tateyama type<\/td>MPDT<\/td>614321<\/td>CAV3<\/td><\/td>601253<\/td>SEQ, MLPA, NGS<\/td>M<\/td>Neuro<\/td> <\/tr>\n
Myotonia congenita Becker, autosomal recessive<\/td><\/td>255700<\/td>CLCN1<\/td><\/td>118425<\/td>SEQ, MLPA, NGS<\/td>M<\/td>Neuro<\/td> <\/tr>\n
Myotonia congenita Thomsen, autosomal dominant<\/td><\/td>160800<\/td>CLCN1<\/td><\/td>118425<\/td>SEQ, MLPA, NGS<\/td>M<\/td>Neuro<\/td> <\/tr>\n
Myotonia congenita, acetazolamide-responsive<\/td>sodium channel myotonia<\/td>608390<\/td>SCN4A<\/td><\/td>603967<\/td>SEQ, MLPA, NGS<\/td>M<\/td>Neuro<\/td> <\/tr>\n
Myotubular myopathy\/ centronuclear myopathy, autosomal dominant<\/td>CNM1<\/td>160150<\/td>DNM2<\/td><\/td>602378<\/td>SEQ, NGS<\/td>M<\/td>Neuro<\/td> <\/tr>\n
Myotubular myopathy\/ centronuclear myopathy, X-chromosomal-recessive<\/td>CNMX<\/td>310400<\/td>MTM1<\/td><\/td>300415<\/td>SEQ, NGS<\/td>M<\/td>Neuro<\/td> <\/tr>\n
N-acetylglutamate synthase deficiency<\/td>NAGS deficiency<\/td>237310<\/td>NAGS<\/td><\/td>608300<\/td>SEQ, NGS<\/td>N<\/td>Meta<\/td> <\/tr>\n
N-acetylglutamate synthase deficiency<\/td>NAGS deficiency<\/td>237310<\/td>NAGS<\/td><\/td>608300<\/td>SEQ, NGS<\/td>N<\/td>Path<\/td> <\/tr>\n
Nail-patella syndrome<\/td>NPS, Turner-Kieser syndrome, Fong disease<\/td>161200<\/td>LMX1B<\/td>NPS1<\/td>602575<\/td>SEQ, MLPA, NGS<\/td>N<\/td>Syndro<\/td> <\/tr>\n
Narcolepsy type 1<\/td>NRCLP1<\/td>161400<\/td>HCRT<\/td><\/td>602358<\/td>SEQ, NGS<\/td>N<\/td>Neuro<\/td> <\/tr>\n
Narcolepsy type 5<\/td>NRCLP5<\/td>612851<\/td>TRA rs1154155<\/td>TRA@, T-cell receptor alpha, TCRA<\/td>186880<\/td>SEQ<\/td>N<\/td>Neuro<\/td> <\/tr>\n
Narcolepsy type 7<\/td>NRCLP7<\/td>614250<\/td>MOG<\/td><\/td>159465<\/td>SEQ, NGS<\/td>N<\/td>Neuro<\/td> <\/tr>\n
Narcolepsy, association<\/td><\/td>161400<\/td>HLA-DQB1*0602 allele<\/td><\/td>604305<\/td>SEQ<\/td>N<\/td>Neuro<\/td> <\/tr>\n
NARP<\/td>Neuropathy, Ataxia, retinitis pigmentosa<\/td>551500<\/td>MT-ATP6<\/td><\/td>516060<\/td>SEQ, NGS<\/td>N<\/td>Neuro<\/td> <\/tr>\n
Neurodegeneration with brain iron accumulation, type 1<\/td>NBIA1, formerly Hallervorden-Spatz disease<\/td>234200<\/td>PANK2<\/td><\/td>606157<\/td>SEQ, MLPA, NGS<\/td>N<\/td>Neuro<\/td> <\/tr>\n
Neurodegeneration with brain iron accumulation, type 2A<\/td>NBIA2A, infantile neuroaxonal dystrophy<\/td>256600<\/td>PLA2G6<\/td><\/td>603604<\/td>SEQ, MLPA, NGS<\/td>N<\/td>Neuro<\/td> <\/tr>\n
Neurodegeneration with brain iron accumulation, type 2B<\/td>NBIA2B<\/td>610217<\/td>PLA2G6<\/td><\/td>603604<\/td>SEQ, MLPA, NGS<\/td>N<\/td>Neuro<\/td> <\/tr>\n
Neurodegeneration with brain iron accumulation, type 3<\/td>NBIA3<\/td>606159<\/td>FTL<\/td><\/td>134790<\/td>SEQ, NGS<\/td>N<\/td>Neuro<\/td> <\/tr>\n
Neurodegeneration with brain iron accumulation, type 5<\/td>NBIA5<\/td>300894<\/td>WDR45<\/td><\/td>300526<\/td>SEQ, NGS<\/td>N<\/td>Neuro<\/td> <\/tr>\n
Neurofibromatosis type 1<\/td>NF1<\/td>162200<\/td>NF1<\/td><\/td>613113<\/td>SEQ, MLPA, NGS<\/td>N<\/td>Tumor<\/td> <\/tr>\n
Neurofibromatosis type 1-like syndrome<\/td>Legius syndrome<\/td>611431<\/td>SPRED1<\/td><\/td>609291<\/td>SEQ, MLPA, NGS<\/td>N<\/td>Tumor<\/td> <\/tr>\n
Neurofibromatosis type 2<\/td>NF2<\/td>101000<\/td>NF2<\/td><\/td>607379<\/td>SEQ, MLPA, NGS<\/td>N<\/td>Tumor<\/td> <\/tr>\n
Neuropathy with giant axonal swelling, type 1<\/td>Giant Axonal Neuropathy 1, GAN1<\/td>256850<\/td>GAN<\/td><\/td>605379<\/td>SEQ, NGS<\/td>N<\/td>Neuro<\/td> <\/tr>\n
Neuropathy, distal hereditary motor, type IIA<\/td>HMN2A<\/td>158590<\/td>HSPB8<\/td><\/td>608014<\/td>SEQ, MLPA, NGS<\/td>N<\/td>Neuro<\/td> <\/tr>\n
Neuropathy, distal hereditary motor, type IIB<\/td>HMN2B<\/td>608634<\/td>HSPB1<\/td><\/td>602195<\/td>SEQ, MLPA, NGS<\/td>N<\/td>Neuro<\/td> <\/tr>\n
Neuropathy, distal hereditary motor, type VA<\/td>HMN5A<\/td>600794<\/td>BSCL2<\/td><\/td>606158<\/td>SEQ, NGS<\/td>N<\/td>Neuro<\/td> <\/tr>\n
Niemann-Pick disease, type A<\/td><\/td>257200<\/td>SMPD1<\/td><\/td>607608<\/td>SEQ, MLPA, NGS<\/td>N<\/td>Meta<\/td> <\/tr>\n
Niemann-Pick disease, type B<\/td><\/td>607616<\/td>SMPD1<\/td><\/td>607608<\/td>SEQ, MLPA, NGS<\/td>N<\/td>Meta<\/td> <\/tr>\n
Niemann-Pick disease, type C1<\/td>NPC1<\/td>257220<\/td>NPC1<\/td><\/td>607623<\/td>SEQ, MLPA, NGS<\/td>N<\/td>Meta<\/td> <\/tr>\n
Niemann-Pick disease, type C2<\/td>NPC2<\/td>607625<\/td>NPC2<\/td><\/td>601015<\/td>SEQ, MLPA, NGS<\/td>N<\/td>Meta<\/td> <\/tr>\n
Nijmegen breakage syndrome<\/td>NBS<\/td>251260<\/td>NBN<\/td>NBS1<\/td>602667<\/td>SEQ, NGS<\/td>N<\/td>Tumor<\/td> <\/tr>\n
Nonautoimmune hyperthyroidism<\/td><\/td>609152<\/td>TSHR<\/td><\/td>603372<\/td>SEQ, MLPA, NGS<\/td>N<\/td>Meta<\/td> <\/tr>\n
Noonan syndrome 1<\/td>NS1<\/td>163950<\/td>PTPN11<\/td><\/td>176876<\/td>SEQ, NGS<\/td>N<\/td>Syndro<\/td> <\/tr>\n
Noonan syndrome 3<\/td>NS3<\/td>609942<\/td>KRAS<\/td><\/td>190070<\/td>SEQ, NGS<\/td>N<\/td>Syndro<\/td> <\/tr>\n
Noonan syndrome 4<\/td>NS4<\/td>610733<\/td>SOS1<\/td><\/td>182530<\/td>SEQ, NGS<\/td>N<\/td>Syndro<\/td> <\/tr>\n
Noonan syndrome 5<\/td>NS5<\/td>611553<\/td>RAF1<\/td><\/td>164760<\/td>SEQ, NGS<\/td>N<\/td>Syndro<\/td> <\/tr>\n
Noonan syndrome 6<\/td>NS6<\/td>613224<\/td>NRAS<\/td>NRAS1<\/td>64790<\/td>SEQ, NGS<\/td>N<\/td>Syndro<\/td> <\/tr>\n
Noonan syndrome 7<\/td>NS7<\/td>613706<\/td>BRAF<\/td><\/td>164757<\/td>SEQ, NGS<\/td>N<\/td>Syndro<\/td> <\/tr>\n
Noonan syndrome 8<\/td>NS8<\/td>615355<\/td>RIT1<\/td><\/td>609591<\/td>SEQ, NGS<\/td>N<\/td>Syndro<\/td> <\/tr>\n
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia<\/td>NSLL, CBL syndrome<\/td>613563<\/td>CBL<\/td><\/td>165360<\/td>SEQ, NGS<\/td>N<\/td>Syndro<\/td> <\/tr>\n
Noonan syndrome-like with loose anagen hair<\/td><\/td>607721<\/td>SHOC2<\/td><\/td>602775<\/td>SEQ, NGS<\/td>N<\/td>Syndro<\/td> <\/tr>\n
Obesity<\/td><\/td>601665<\/td>MC4R<\/td><\/td>155541<\/td>SEQ, MLPA, NGS<\/td>O<\/td>Meta<\/td> <\/tr>\n
Obesity<\/td><\/td><\/td>SIM1<\/td><\/td>603128<\/td>SEQ, MLPA, NGS<\/td>O<\/td>Meta<\/td> <\/tr>\n
Obesity, early-onset, with adrenal insufficiency and red hair<\/td>OBAIRH<\/td>609734<\/td>POMC<\/td><\/td>176830<\/td>SEQ, MLPA, NGS<\/td>O<\/td>Meta<\/td> <\/tr>\n
Obesity, morbid, due to leptin deficiency<\/td><\/td>614962<\/td>LEP<\/td><\/td>164160<\/td>SEQ, MLPA, NGS<\/td>O<\/td>Meta<\/td> <\/tr>\n
Obesity, morbid, due to leptin receptor deficiency<\/td><\/td>614963<\/td>LEPR<\/td><\/td>601007<\/td>SEQ, MLPA, NGS<\/td>O<\/td>Meta<\/td> <\/tr>\n
Ocular albinism, type 1<\/td>OA1, Nettleship-Falls type<\/td>300500<\/td>GPR143<\/td>OA1 gene<\/td>300808<\/td>SEQ, MLPA, NGS<\/td>O<\/td>Meta<\/td> <\/tr>\n
Oculopharyngeal muscular dystrophy<\/td>OPMD<\/td>164300<\/td>PABPN1 repeat<\/td><\/td>602279<\/td>REP<\/td>O<\/td>Neuro<\/td> <\/tr>\n
Odontohypophosphatasia<\/td>HPPO<\/td>146300<\/td>ALPL<\/td><\/td>171760<\/td>SEQ, MLPA, NGS<\/td>O<\/td>Meta<\/td> <\/tr>\n
Odontoonychodermal dysplasia<\/td>OODD<\/td>257980<\/td>WNT10A<\/td><\/td>606268<\/td>SEQ, MLPA, NGS<\/td>O<\/td>Syndro<\/td> <\/tr>\n
Oligodontia-colorectal cancer syndrome<\/td>ODCRCS<\/td>608615<\/td>AXIN2<\/td><\/td>604025<\/td>SEQ, NGS<\/td>O<\/td>Syndro<\/td> <\/tr>\n
Oliver-McFarlane syndrome<\/td>OMCS<\/td>275400<\/td>PNPLA6<\/td><\/td>603197<\/td>SEQ, NGS<\/td>O<\/td>Neuro<\/td> <\/tr>\n
Optic atrophy<\/td>Kjer type, OPA1<\/td>165500<\/td>OPA1<\/td><\/td>605290<\/td>SEQ, MLPA, NGS<\/td>O<\/td>Sensory<\/td> <\/tr>\n
Optic atrophy-7 with or without auditory neuropathy<\/td>OPA7<\/td><\/td>TMEM126A<\/td><\/td>612988<\/td>SEQ, NGS<\/td>O<\/td>Sensory<\/td> <\/tr>\n
Optic nerve hypoplasia, bilateral<\/td>Optic nerve aplasia, bilateral<\/td>165550<\/td>PAX6<\/td><\/td>607108<\/td>SEQ, MLPA, NGS<\/td>O<\/td>Sensory<\/td> <\/tr>\n
Ornithine transcarbamylase deficiency<\/td>Hyperammonemia due to OTC deficiency<\/td>311250<\/td>OTC<\/td><\/td>300461<\/td>SEQ, MLPA, NGS<\/td>O<\/td>Meta<\/td> <\/tr>\n
Ornithine transcarbamylase deficiency<\/td>Hyperammonemia due to OTC deficiency<\/td>311250<\/td>OTC<\/td><\/td>300461<\/td>SEQ, MLPA, NGS<\/td>O<\/td>Path<\/td> <\/tr>\n
Orofacial cleft type 5<\/td><\/td>608874<\/td>MSX1<\/td><\/td>142983<\/td>SEQ, NGS<\/td>O<\/td>Syndro<\/td> <\/tr>\n
Orofaciodigital syndrome type 1<\/td>OFD I<\/td>311200<\/td>CXORF5<\/td><\/td>300170<\/td>SEQ, NGS<\/td>O<\/td>Syndro<\/td> <\/tr>\n
Osseous heteroplasia, progressive<\/td>POH<\/td>166350<\/td>GNAS<\/td><\/td>139320<\/td>SEQ, MLPA, NGS<\/td>O<\/td>Tissue<\/td> <\/tr>\n
Osteogenesis imperfecta, type I<\/td>OI1<\/td>166200<\/td>COL1A1<\/td><\/td>120150<\/td>SEQ, MLPA, NGS<\/td>O<\/td>Tissue<\/td> <\/tr>\n
Osteogenesis imperfecta, type II<\/td>OI2<\/td>166210<\/td>COL1A1<\/td><\/td>120150<\/td>SEQ, MLPA, NGS<\/td>O<\/td>Tissue<\/td> <\/tr>\n
Osteogenesis imperfecta, type II<\/td>OI2<\/td>166210<\/td>COL1A2<\/td><\/td>120160<\/td>SEQ, MLPA, NGS<\/td>O<\/td>Tissue<\/td> <\/tr>\n
Osteogenesis imperfecta, type III<\/td>OI3<\/td>259420<\/td>COL1A1<\/td><\/td>120150<\/td>SEQ, MLPA, NGS<\/td>O<\/td>Tissue<\/td> <\/tr>\n
Osteogenesis imperfecta, type III<\/td>OI3<\/td>259420<\/td>COL1A2<\/td><\/td>120160<\/td>SEQ, MLPA, NGS<\/td>O<\/td>Tissue<\/td> <\/tr>\n
Osteogenesis imperfecta, type IV<\/td>OI4<\/td>166220<\/td>COL1A1<\/td><\/td>120150<\/td>SEQ, MLPA, NGS<\/td>O<\/td>Tissue<\/td> <\/tr>\n
Osteogenesis imperfecta, type IV<\/td>OI4<\/td>166220<\/td>COL1A2<\/td><\/td>120160<\/td>SEQ, MLPA, NGS<\/td>O<\/td>Tissue<\/td> <\/tr>\n
Osteogenesis imperfecta, type XI<\/td>OI11<\/td>610968<\/td>FKBP10<\/td>FK506<\/td>607063<\/td>SEQ, NGS<\/td>O<\/td>Tissue<\/td> <\/tr>\n
Otospondylomegaepiphyseal dysplasia, autosomal dominant<\/td>OSMEDA, Weissenbacher-Zweymuller syndrome, WZS, formerly: Stickler syndrome type 3, STL3<\/td>184840<\/td>COL11A2<\/td><\/td>120290<\/td>SEQ, NGS<\/td>O<\/td>Syndro<\/td> <\/tr>\n
Otospondylomegaepiphyseal dysplasia, autosomal recessive<\/td>OSMED<\/td>215150<\/td>COL11A2<\/td><\/td>120290<\/td>SEQ, NGS<\/td>O<\/td>Tissue<\/td> <\/tr>\n
Ovarioleukodystrophy<\/td>Vanishing white matter leukodystrophy with ovarian failure<\/td>603896<\/td>EIF2B2<\/td><\/td>606454<\/td>SEQ, NGS<\/td>O<\/td>Neuro<\/td> <\/tr>\n
Ovarioleukodystrophy<\/td>Vanishing white matter leukodystrophy with ovarian failure<\/td>603896<\/td>EIF2B5<\/td><\/td>603945<\/td>SEQ, NGS<\/td>O<\/td>Neuro<\/td> <\/tr>\n
Paget disease of bone<\/td>PDB3<\/td>602080<\/td>SQSTM1<\/td><\/td>601530<\/td>SEQ, NGS<\/td>P<\/td>Tissue<\/td> <\/tr>\n
Pallister-Hall syndrome<\/td>hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly<\/td>146510<\/td>GLI3<\/td><\/td>165240<\/td>SEQ, NGS<\/td>P<\/td>Syndro<\/td> <\/tr>\n
Pancreatic cancer, susceptibility, type 1<\/td>PNCA1<\/td>606856<\/td>PALLD<\/td><\/td>608092<\/td>SEQ, NGS<\/td>P<\/td>Tumor<\/td> <\/tr>\n
Pancreatic cancer, susceptibility, type 2<\/td>PNCA2<\/td>613347<\/td>BRCA2<\/td><\/td>600185<\/td>SEQ, MLPA, NGS<\/td>P<\/td>Tumor<\/td> <\/tr>\n
Pancreatic cancer, susceptibility, type 3<\/td>PNCA3<\/td>613348<\/td>PALB2<\/td><\/td>610355<\/td>SEQ, MLPA, NGS<\/td>P<\/td>Tumor<\/td> <\/tr>\n
Pancreatic cancer, susceptibility, type 4<\/td>PNCA4<\/td>614320<\/td>BRCA1<\/td><\/td>113705<\/td>SEQ, MLPA, NGS<\/td>P<\/td>Tumor<\/td> <\/tr>\n
Paragangliomas, familial, type 1<\/td>PGL1<\/td>168000<\/td>SDHD<\/td><\/td>602690<\/td>SEQ, MLPA, NGS<\/td>P<\/td>Tumor<\/td> <\/tr>\n
Paragangliomas, familial, type 2<\/td>PGL2<\/td>601650<\/td>SDHAF2<\/td>SDH5<\/td>613019<\/td>SEQ, MLPA, NGS<\/td>P<\/td>Tumor<\/td> <\/tr>\n
Paragangliomas, familial, type 3<\/td>PGL3<\/td>605373<\/td>SDHC<\/td><\/td>602413<\/td>SEQ, MLPA, NGS<\/td>P<\/td>Tumor<\/td> <\/tr>\n
Paragangliomas, familial, type 4<\/td>PGL4<\/td>115310<\/td>SDHB<\/td><\/td>185470<\/td>SEQ, MLPA, NGS<\/td>P<\/td>Tumor<\/td> <\/tr>\n
Paragangliomas, familial, type 5<\/td>PGL5<\/td>614165<\/td>SDHA<\/td><\/td>600857<\/td>SEQ, MLPA, NGS<\/td>P<\/td>Tumor<\/td> <\/tr>\n
Paramyotonia congenita of von Eulenburg<\/td>PMC<\/td>168300<\/td>SCN4A<\/td><\/td>603967<\/td>SEQ, MLPA, NGS<\/td>P<\/td>Neuro<\/td> <\/tr>\n
Parastremmatic dwarfism<\/td><\/td>168400<\/td>TRPV4<\/td><\/td>605427<\/td>SEQ, NGS<\/td>P<\/td>Tissue<\/td> <\/tr>\n
Parkinson disease, autosomal dominant, type 1<\/td>PARK1, Lewy Body Parkinson disease<\/td>168601<\/td>SNCA<\/td><\/td>163890<\/td>SEQ, MLPA, NGS<\/td>P<\/td>Neuro<\/td> <\/tr>\n
Parkinson disease, autosomal dominant, type 4<\/td>PARK4, Lewy Body Parkinson disease<\/td>605543<\/td>SNCA<\/td><\/td>163890<\/td>SEQ, MLPA, NGS<\/td>P<\/td>Neuro<\/td> <\/tr>\n
Parkinson disease, autosomal dominant, type 5<\/td>PARK5<\/td>613643<\/td>UCHL1<\/td><\/td>191342<\/td>SEQ, MLPA, NGS<\/td>P<\/td>Neuro<\/td> <\/tr>\n
Parkinson disease, autosomal dominant, type 8<\/td>PARK8<\/td>607060<\/td>LRRK2<\/td><\/td>609007<\/td>SEQ, MLPA, NGS<\/td>P<\/td>Neuro<\/td> <\/tr>\n
Parkinson disease, autosomal recessive, adult-onset, type 14<\/td>PARK14, Dystonia-parkinsonismus<\/td>612953<\/td>PLA2G6<\/td><\/td>603604<\/td>SEQ, MLPA, NGS<\/td>P<\/td>Neuro<\/td> <\/tr>\n
Parkinson disease, autosomal recessive, early-onset, type 6<\/td>PARK6<\/td>605909<\/td>PINK1<\/td><\/td>608309<\/td>SEQ, MLPA, NGS<\/td>P<\/td>Neuro<\/td> <\/tr>\n
Parkinson disease, autosomal recessive, early-onset, type 7<\/td>PARK7<\/td>606324<\/td>PARK7<\/td>DJ1<\/td>602533<\/td>SEQ, MLPA, NGS<\/td>P<\/td>Neuro<\/td> <\/tr>\n
Parkinson disease, autosomal recessive, juvenile, type 2<\/td>PARK2<\/td>600116<\/td>PARK2<\/td>PRKN<\/td>602544<\/td>SEQ, MLPA, NGS<\/td>P<\/td>Neuro<\/td> <\/tr>\n
Paroxysmal extreme pain disorder<\/td>PEXPD or PEPD<\/td>167400<\/td>SCN9A<\/td><\/td>603415<\/td>SEQ, NGS<\/td>P<\/td>Neuro<\/td> <\/tr>\n
Paroxysmal kinesigenic dyskinesia<\/td>PKD, Dystonie 10<\/td>128200<\/td>PRRT2<\/td><\/td>614386<\/td>SEQ, MLPA, NGS<\/td>P<\/td>Neuro<\/td> <\/tr>\n
Partial deficiency of complement component 4<\/td><\/td>120790<\/td>SERPING1<\/td><\/td>606860<\/td>SEQ, MLPA, NGS<\/td>P<\/td>Coagul<\/td> <\/tr>\n
Patterned dystrophy of retinal pigment epithelium, butterfly shaped<\/td>MDPT1<\/td>169150<\/td>PRPH2<\/td><\/td>179605<\/td>SEQ, MLPA, NGS<\/td>P<\/td>Sensory<\/td> <\/tr>\n
Periodic fever, menstrual cycle-dependent<\/td>PMFC<\/td>614674<\/td>HTR1A promoter mutation -480delA<\/td><\/td>109760<\/td>SEQ<\/td>P<\/td>Fever<\/td> <\/tr>\n
Perthes disease<\/td>Legg-Calve-Perthes disease<\/td>150600<\/td>COL2A1<\/td><\/td>120140<\/td>SEQ, MLPA, NGS<\/td>P<\/td>Tissue<\/td> <\/tr>\n
Peutz-Jeghers syndrome<\/td>PJS<\/td>175200<\/td>STK11<\/td><\/td>602216<\/td>SEQ, MLPA, NGS<\/td>P<\/td>Tumor<\/td> <\/tr>\n
Pfeiffer syndrome<\/td>FGFR1 136350 p.Pro252Arg<\/td>101600<\/td>FGFR1 p.Pro252Arg<\/td><\/td>136350<\/td>SEQ<\/td>P<\/td>Syndro<\/td> <\/tr>\n
Pfeiffer syndrome<\/td><\/td>101600<\/td>FGFR2<\/td><\/td>176943<\/td>SEQ, MLPA, NGS<\/td>P<\/td>Syndro<\/td> <\/tr>\n
Phenylketonuria<\/td>PKU, hyperphenylalaninemia<\/td>261600<\/td>PAH<\/td><\/td>612349<\/td>SEQ, MLPA, NGS<\/td>P<\/td>Meta<\/td> <\/tr>\n
Pheochromocytoma<\/td>PCC<\/td>171300<\/td>MAX<\/td><\/td>154950<\/td>SEQ, MLPA, NGS<\/td>P<\/td>Kidney<\/td> <\/tr>\n
Pheochromocytoma<\/td>PCC<\/td>171300<\/td>MAX<\/td><\/td>154950<\/td>SEQ, MLPA, NGS<\/td>P<\/td>Tumor<\/td> <\/tr>\n
Pheochromocytoma<\/td>PCC<\/td>171300<\/td>RET<\/td><\/td>164761<\/td>SEQ, MLPA, NGS<\/td>P<\/td>Kidney<\/td> <\/tr>\n
Pheochromocytoma<\/td>PCC<\/td>171300<\/td>RET<\/td><\/td>164761<\/td>SEQ, MLPA, NGS<\/td>P<\/td>Tumor<\/td> <\/tr>\n
Pheochromocytoma<\/td>PCC<\/td>171300<\/td>SDHB<\/td><\/td>185470<\/td>SEQ, MLPA, NGS<\/td>P<\/td>Kidney<\/td> <\/tr>\n
Pheochromocytoma<\/td>PCC<\/td>171300<\/td>SDHB<\/td><\/td>185470<\/td>SEQ, MLPA, NGS<\/td>P<\/td>Tumor<\/td> <\/tr>\n
Pheochromocytoma<\/td>PCC<\/td>171300<\/td>SDHC<\/td><\/td>602413<\/td>SEQ, MLPA, NGS<\/td>P<\/td>Kidney<\/td> <\/tr>\n
Pheochromocytoma<\/td>PCC<\/td>171300<\/td>SDHC<\/td><\/td>602413<\/td>SEQ, MLPA, NGS<\/td>P<\/td>Tumor<\/td> <\/tr>\n
Pheochromocytoma<\/td>PCC<\/td>171300<\/td>SDHD<\/td><\/td>602690<\/td>SEQ, MLPA, NGS<\/td>P<\/td>Kidney<\/td> <\/tr>\n
Pheochromocytoma<\/td>PCC<\/td>171300<\/td>SDHD<\/td><\/td>602690<\/td>SEQ, MLPA, NGS<\/td>P<\/td>Tumor<\/td> <\/tr>\n
Pheochromocytoma<\/td>PCC<\/td>171300<\/td>TMEM127<\/td><\/td>613403<\/td>SEQ, NGS<\/td>P<\/td>Kidney<\/td> <\/tr>\n
Pheochromocytoma<\/td>PCC<\/td>171300<\/td>TMEM127<\/td><\/td>613403<\/td>SEQ, NGS<\/td>P<\/td>Tumor<\/td> <\/tr>\n
Pheochromocytoma<\/td>PCC<\/td>171300<\/td>VHL<\/td><\/td>608537<\/td>SEQ, MLPA, NGS<\/td>P<\/td>Kidney<\/td> <\/tr>\n
Pheochromocytoma<\/td>PCC<\/td>171300<\/td>VHL<\/td><\/td>608537<\/td>SEQ, MLPA, NGS<\/td>P<\/td>Tumor<\/td> <\/tr>\n
Pheochromocytoma \/ Paraganglioma syndromes, familial<\/td>PCC\/PGL<\/td><\/td>MAX<\/td><\/td>154950<\/td>SEQ, MLPA, NGS<\/td>P<\/td>Tumor<\/td> <\/tr>\n
Pheochromocytoma \/ Paraganglioma syndromes, familial<\/td>PCC\/PGL<\/td><\/td>MAX<\/td><\/td>154950<\/td>SEQ, MLPA, NGS<\/td>P<\/td>Kidney<\/td> <\/tr>\n
Pheochromocytoma \/ Paraganglioma syndromes, familial<\/td>PCC\/PGL<\/td><\/td>SDHAF2<\/td>SDH5<\/td>613019<\/td>SEQ, MLPA, NGS<\/td>P<\/td>Tumor<\/td> <\/tr>\n
Pheochromocytoma \/ Paraganglioma syndromes, familial<\/td>PCC\/PGL<\/td><\/td>SDHAF2<\/td>SDH5<\/td>613019<\/td>SEQ, MLPA, NGS<\/td>P<\/td>Tumor<\/td> <\/tr>\n
Pheochromocytoma \/ Paraganglioma syndromes, familial<\/td>PCC\/PGL<\/td><\/td>SDHB<\/td><\/td>185470<\/td>SEQ, MLPA, NGS<\/td>P<\/td>Kidney<\/td> <\/tr>\n
Pheochromocytoma \/ Paraganglioma syndromes, familial<\/td>PCC\/PGL<\/td><\/td>SDHB<\/td><\/td>185470<\/td>SEQ, MLPA, NGS<\/td>P<\/td>Kidney<\/td> <\/tr>\n
Pheochromocytoma \/ Paraganglioma syndromes, familial<\/td>PCC\/PGL<\/td><\/td>SDHC<\/td><\/td>602413<\/td>SEQ, MLPA, NGS<\/td>P<\/td>Tumor<\/td> <\/tr>\n
Pheochromocytoma \/ Paraganglioma syndromes, familial<\/td>PCC\/PGL<\/td><\/td>SDHC<\/td><\/td>602413<\/td>SEQ, MLPA, NGS<\/td>P<\/td>Tumor<\/td> <\/tr>\n
Pheochromocytoma \/ Paraganglioma syndromes, familial<\/td>PCC\/PGL<\/td><\/td>SDHD<\/td><\/td>602690<\/td>SEQ, MLPA, NGS<\/td>P<\/td>Kidney<\/td> <\/tr>\n
Pheochromocytoma \/ Paraganglioma syndromes, familial<\/td>PCC\/PGL<\/td><\/td>SDHD<\/td><\/td>602690<\/td>SEQ, MLPA, NGS<\/td>P<\/td>Kidney<\/td> <\/tr>\n
Pheochromocytoma \/ Paraganglioma syndromes, familial<\/td>PCC\/PGL<\/td><\/td>TMEM127<\/td><\/td>613403<\/td>SEQ, NGS<\/td>P<\/td>Kidney<\/td> <\/tr>\n
Pheochromocytoma \/ Paraganglioma syndromes, familial<\/td>PCC\/PGL<\/td><\/td>TMEM127<\/td><\/td>613403<\/td>SEQ, NGS<\/td>P<\/td>Tumor<\/td> <\/tr>\n
Phosphoribosylpyrophosphate synthetase superactivity<\/td>PRPS-related Gout, hyperuricemia<\/td>300661<\/td>PRPS1<\/td><\/td>311850<\/td>SEQ, NGS<\/td>P<\/td>Meta<\/td> <\/tr>\n
Pick disease of brain<\/td>Dementia with lobar atrophy and neuronal cytoplasmic inclusions<\/td>172700<\/td>MAPT<\/td><\/td>157140<\/td>SEQ, MLPA, NGS<\/td>P<\/td>Neuro<\/td> <\/tr>\n
Pick disease of brain<\/td>Dementia with lobar atrophy and neuronal cytoplasmic inclusions<\/td>172700<\/td>PSEN1<\/td><\/td>104311<\/td>SEQ, MLPA, NGS<\/td>P<\/td>Neuro<\/td> <\/tr>\n
Pigmented nodular adrenocortical disease, primary, 1<\/td>PPNAD1<\/td>610489<\/td>PRKAR1A<\/td><\/td>188830<\/td>SEQ, MLPA, NGS<\/td>P<\/td>Tumor<\/td> <\/tr>\n
Pigmented nodular adrenocortical disease, primary, 1<\/td>PPNAD1<\/td>610489<\/td>PRKAR1A<\/td><\/td>188830<\/td>SEQ, MLPA, NGS<\/td>P<\/td>Kidney<\/td> <\/tr>\n
Polycystic kidney disease 1<\/td>PKD1<\/td>173900<\/td>PKD1<\/td><\/td>601313<\/td>SEQ, MLPA, NGS<\/td>P<\/td>Kidney<\/td> <\/tr>\n
Polycystic kidney disease 2<\/td>PKD2<\/td>613095<\/td>PKD2<\/td><\/td>173910<\/td>SEQ, MLPA, NGS<\/td>P<\/td>Kidney<\/td> <\/tr>\n
Polycystic kidney disease type 1<\/td>PKD1<\/td>173900<\/td>PKD1<\/td><\/td>601313<\/td>SEQ, MLPA, NGS<\/td>P<\/td>Syndro<\/td> <\/tr>\n
Polycystic kidney disease type 2<\/td>PKD2<\/td>613095<\/td>PKD2<\/td><\/td>173910<\/td>SEQ, MLPA, NGS<\/td>P<\/td>Syndro<\/td> <\/tr>\n
Polycystic kidney disease type 3<\/td>PKD3<\/td>600666<\/td>GANAB<\/td><\/td>104160<\/td>SEQ, NGS<\/td>P<\/td>Kidney<\/td> <\/tr>\n
Polycystic kidney disease type 3<\/td>PKD3<\/td>600666<\/td>GANAB<\/td><\/td>104160<\/td>SEQ, NGS<\/td>P<\/td>Syndro<\/td> <\/tr>\n
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy-2<\/td>PLOSL2<\/td>618193<\/td>TREM2<\/td><\/td>605086<\/td>SEQ, NGS<\/td>P<\/td>Neuro<\/td> <\/tr>\n
Polycystic liver disease 1<\/td>PCLD1<\/td>174050<\/td>PRKCSH<\/td><\/td>177060<\/td>SEQ, NGS<\/td>P<\/td>Syndro<\/td> <\/tr>\n
Polycystic liver disease 2<\/td>PCLD2<\/td>174050<\/td>SEC63<\/td><\/td>608648<\/td>SEQ, NGS<\/td>P<\/td>Syndro<\/td> <\/tr>\n
Pontocerebellar hypoplasia type 2A<\/td>PCH2A<\/td>277470<\/td>TSEN54<\/td><\/td>608755<\/td>SEQ, NGS<\/td>P<\/td>Neuro<\/td> <\/tr>\n
Pontocerebellar hypoplasia type 2B<\/td>PCH2B<\/td>612389<\/td>TSEN2<\/td><\/td>608753<\/td>SEQ, NGS<\/td>P<\/td>Neuro<\/td> <\/tr>\n
Pontocerebellar hypoplasia type 2C<\/td>PCH2C<\/td>612390<\/td>TSEN34<\/td><\/td>608754<\/td>SEQ, NGS<\/td>P<\/td>Neuro<\/td> <\/tr>\n
Pontocerebellar hypoplasia type 4<\/td>PCH4<\/td>225753<\/td>TSEN54<\/td><\/td>608755<\/td>SEQ, NGS<\/td>P<\/td>Neuro<\/td> <\/tr>\n
Popliteal pterygium syndrome<\/td>PPS<\/td>119500<\/td>IRF6<\/td><\/td>607199<\/td>SEQ, MLPA, NGS<\/td>P<\/td>Syndro<\/td> <\/tr>\n
Porencephaly type 1<\/td>POREN1, Brain Small Vessel Disease<\/td>175780<\/td>COL4A1<\/td><\/td>120130<\/td>SEQ, NGS<\/td>P<\/td>Neuro<\/td> <\/tr>\n
Porencephaly type 2<\/td>POREN2, Brain Small Vessel Disease<\/td>2614483<\/td>COL4A2<\/td><\/td>120090<\/td>SEQ, NGS<\/td>P<\/td>Neuro<\/td> <\/tr>\n
Porokeratosis type 3, actinic disseminated superficial<\/td>POROK3<\/td>175900<\/td>MVK<\/td><\/td>251170<\/td>SEQ, NGS<\/td>P<\/td>Geno<\/td> <\/tr>\n
Porphyria cutanea tarda<\/td>Uroporphyrinogen decarboxylase deficiency<\/td>176100<\/td>UROD<\/td><\/td>613521<\/td>SEQ, MLPA, NGS<\/td>P<\/td>Meta<\/td> <\/tr>\n
Porphyria, acute intermittent<\/td>AIP<\/td>176000<\/td>HMBS<\/td><\/td>609806<\/td>SEQ, MLPA, NGS<\/td>P<\/td>Meta<\/td> <\/tr>\n
Porphyria, acute intermittent, nonerythroid variant<\/td>AIP<\/td>176000<\/td>HMBS<\/td><\/td>609806<\/td>SEQ, MLPA, NGS<\/td>P<\/td>Meta<\/td> <\/tr>\n
Postaxial polydactyly type A1 and type B<\/td>PAPA1 (PAPB included)<\/td>174200<\/td>GLI3<\/td><\/td>165240<\/td>SEQ, NGS<\/td>P<\/td>Syndro<\/td> <\/tr>\n
Potocki-Lupski syndrome<\/td>PTLS<\/td>610883<\/td>Dup17p11.2 (RAI1 gene)<\/td><\/td>607642<\/td>MLPA<\/td>P<\/td>Micro<\/td> <\/tr>\n
Preaxial polydactyly type IV<\/td>Polysyndactyly, uncomplicated<\/td>174700<\/td>GLI3<\/td><\/td>165240<\/td>SEQ, NGS<\/td>P<\/td>Syndro<\/td> <\/tr>\n
Precocious puberty, central,<\/td>CPPB1<\/td>176400<\/td>KISS1R<\/td><\/td>604161<\/td>SEQ, MLPA, NGS<\/td>P<\/td>Syndro<\/td> <\/tr>\n
Premature ovarian failure 7<\/td>POF7<\/td>612964<\/td>NR5A1<\/td><\/td>184757<\/td>SEQ, MLPA, NGS<\/td>P<\/td>Syndro<\/td> <\/tr>\n
Premature ovarian failure type 3<\/td>POF3<\/td>608996<\/td>FOXL2<\/td><\/td>605597<\/td>SEQ, MLPA, NGS<\/td>P<\/td>Syndro<\/td> <\/tr>\n
Premature ovarian failure type 4<\/td>POF4<\/td>300510<\/td>BMP15<\/td><\/td>300247<\/td>SEQ, NGS<\/td>P<\/td>Syndro<\/td> <\/tr>\n
Primary lateral sclerosis, juvenile<\/td>PLSJ<\/td>606353<\/td>ALS2<\/td><\/td>606352<\/td>SEQ, NGS<\/td>P<\/td>Neuro<\/td> <\/tr>\n
Prion disease with protracted course<\/td><\/td>606688<\/td>PRNP<\/td><\/td>176640<\/td>SEQ, NGS<\/td>P<\/td>Neuro<\/td> <\/tr>\n
Progressive external ophthalmoplegia autosomal recessive 1<\/td>PEOB1, chronic progressive external ophthalmoplegia type 1, CPEO1<\/td>258450<\/td>POLG<\/td>POLG1<\/td>174763<\/td>SEQ, MLPA, NGS<\/td>C<\/td>Neuro<\/td> <\/tr>\n
Progressive external ophthalmoplegia autosomal dominant 1<\/td>PEOA1, chronic progressive external ophthalmoplegia type 1, CPEO1<\/td>157640<\/td>POLG<\/td>POLG1<\/td>174763<\/td>SEQ, MLPA, NGS<\/td>C<\/td>Neuro<\/td> <\/tr>\n
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, type 3<\/td><\/td>609286<\/td>TWNK<\/td>C10orf2, TWINKLE<\/td>606075<\/td>SEQ, MLPA, NGS<\/td>P<\/td>Neuro<\/td> <\/tr>\n
Protein C deficiency, autosomal dominant<\/td>THPH3<\/td>176860<\/td>PROC<\/td><\/td>612283<\/td>SEQ, MLPA, NGS<\/td>P<\/td>Coagul<\/td> <\/tr>\n
Protein C deficiency, autosomal recessive<\/td>THPH4<\/td>612304<\/td>PROC<\/td><\/td>612283<\/td>SEQ, MLPA, NGS<\/td>P<\/td>Coagul<\/td> <\/tr>\n
Protein S deficiency, autosomal dominant<\/td>THPH5<\/td>612336<\/td>PROS1<\/td><\/td>176880<\/td>SEQ, MLPA, NGS<\/td>P<\/td>Coagul<\/td> <\/tr>\n
Protein S deficiency, autosomal recessive<\/td>THPH6<\/td>614514<\/td>PROS1<\/td><\/td>176880<\/td>SEQ, MLPA, NGS<\/td>P<\/td>Coagul<\/td> <\/tr>\n
Protoporphyria, erythropoietic, X-linked<\/td>XLEPP<\/td>300752<\/td>ALAS2<\/td><\/td>301300<\/td>SEQ, NGS<\/td>P<\/td>Meta<\/td> <\/tr>\n
Pseudohypoparathyroidism type 1A<\/td>PHP1A<\/td>103580<\/td>GNAS<\/td><\/td>139320<\/td>SEQ, MLPA, NGS<\/td>P<\/td>Meta<\/td> <\/tr>\n
Pseudohypoparathyroidism type 1B<\/td>PHP1B<\/td>603233<\/td>GNAS<\/td><\/td>139320<\/td>SEQ, MLPA, NGS<\/td>P<\/td>Meta<\/td> <\/tr>\n
Pseudohypoparathyroidism type 1C<\/td>PHP1C<\/td>612462<\/td>GNAS<\/td><\/td>139320<\/td>SEQ, MLPA, NGS<\/td>P<\/td>Meta<\/td> <\/tr>\n
Pseudopseudohypoparathyroidism<\/td>PPHP<\/td>612463<\/td>GNAS<\/td><\/td>139320<\/td>SEQ, MLPA, NGS<\/td>P<\/td>Meta<\/td> <\/tr>\n
PTEN hamartoma tumor syndrome<\/td><\/td>158350<\/td>PTEN<\/td><\/td>601728<\/td>SEQ, MLPA, NGS<\/td>P<\/td>Tumor<\/td> <\/tr>\n
Pulmonary hypertension, primary, 3<\/td>PPH3<\/td>615343<\/td>CAV1<\/td><\/td>601047<\/td>SEQ, NGS<\/td>P<\/td>Cardio<\/td> <\/tr>\n
Pyogenic sterile arthritis, pyoderma gangrenosum, and acne<\/td>PAPA syndrome<\/td>604416<\/td>PSTPIP1<\/td><\/td>606347<\/td>SEQ, NGS<\/td>P<\/td>Tissue<\/td> <\/tr>\n
Pyruvate kinase deficiency of erythrocyte<\/td><\/td>266200<\/td>PKLR<\/td><\/td>609712<\/td>SEQ, MLPA, NGS<\/td>P<\/td>Meta<\/td> <\/tr>\n
Raine syndrome<\/td>RNS, osteosclerotic bone dysplasia, lethal<\/td>259775<\/td>FAM20C<\/td><\/td>611061<\/td>SEQ, NGS<\/td>R<\/td>Syndro<\/td> <\/tr>\n
Raine syndrome<\/td>RNS, osteosclerotic bone dysplasia, lethal<\/td>259775<\/td>FAM20C<\/td><\/td>611061<\/td>SEQ, NGS<\/td>R<\/td>Tissue<\/td> <\/tr>\n
Rapp-Hodgkin syndrome<\/td>ectodermal dysplasia, anhidrotic, with cleft lip\/palate<\/td>129400<\/td>TP63<\/td>p63, TP73L<\/td>603273<\/td>SEQ, NGS<\/td>R<\/td>Syndro<\/td> <\/tr>\n
Renal cell carcinoma, papillary, 1, familial and somatic<\/td>RCCP1<\/td>605074<\/td>MET<\/td><\/td>64860<\/td>SEQ, NGS<\/td>R<\/td>Tumor<\/td> <\/tr>\n
Renal cell carcinoma, papillary, 1, familial and somatic<\/td>RCCP1<\/td>605074<\/td>MET1<\/td><\/td>64860<\/td>SEQ, NGS<\/td>R<\/td>Kidney<\/td> <\/tr>\n
Restless legs syndrome, periodic limb movements in sleep, type 6<\/td>RLS6<\/td>611185<\/td>BTBD9 rs3923809<\/td><\/td>611237<\/td>SEQ<\/td>R<\/td>Neuro<\/td> <\/tr>\n
Retinal cone dystrophy type 3A<\/td>RCD3A<\/td>610024<\/td>PDE6H<\/td><\/td>601190<\/td>SEQ, NGS<\/td>R<\/td>Sensory<\/td> <\/tr>\n
Retinal cone dystrophy type 3B<\/td>RCD3B<\/td>610356<\/td>KCNV2<\/td><\/td>607604<\/td>SEQ, NGS<\/td>R<\/td>Sensory<\/td> <\/tr>\n
Retinitis pigmentosa 73<\/td>RP73<\/td>616544<\/td>HGSNAT<\/td><\/td>610453<\/td>SEQ, NGS<\/td>R<\/td>Sensory<\/td> <\/tr>\n
Retinitis pigmentosa type 7, digenic included<\/td>RP7<\/td>608133<\/td>PRPH2<\/td><\/td>179605<\/td>SEQ, MLPA, NGS<\/td>R<\/td>Sensory<\/td> <\/tr>\n
Retinitis punctata albescens<\/td>RPA<\/td>136880<\/td>PRPH2<\/td><\/td>179605<\/td>SEQ, MLPA, NGS<\/td>R<\/td>Sensory<\/td> <\/tr>\n
Retinoblastoma<\/td>RB<\/td>180200<\/td>RB1<\/td><\/td>614041<\/td>SEQ, MLPA, NGS<\/td>R<\/td>Tumor<\/td> <\/tr>\n
Retinoschisis 1, X-linked, juvenile<\/td><\/td>312700<\/td>RS1<\/td><\/td>300839<\/td>SEQ, NGS<\/td>R<\/td>Sensory<\/td> <\/tr>\n
Rett syndrome<\/td><\/td>312750<\/td>MECP2<\/td><\/td>300005<\/td>SEQ, MLPA, NGS<\/td>R<\/td>Syndro<\/td> <\/tr>\n
Rett syndrome, congenital variant<\/td><\/td>613454<\/td>FOXG1<\/td><\/td>164874<\/td>SEQ, MLPA, NGS<\/td>R<\/td>Syndro<\/td> <\/tr>\n
Rippling muscle disease<\/td>RMD<\/td>606072<\/td>CAV3<\/td><\/td>601253<\/td>SEQ, MLPA, NGS<\/td>R<\/td>Neuro<\/td> <\/tr>\n
Robinow syndrome, autosomal dominant<\/td><\/td>180700<\/td>WNT5A<\/td><\/td>164975<\/td>SEQ, NGS<\/td>R<\/td>Syndro<\/td> <\/tr>\n
Saethre-Chotzen syndrome<\/td>SCS, acrocephalosyndactyly, type III<\/td>101400<\/td>TWIST1<\/td><\/td>601622<\/td>SEQ, MLPA, NGS<\/td>S<\/td>Syndro<\/td> <\/tr>\n
Saethre-Chotzen syndrome with eyelid anomalies<\/td><\/td>101400<\/td>TWIST1<\/td><\/td>601622<\/td>SEQ, MLPA, NGS<\/td>S<\/td>Syndro<\/td> <\/tr>\n
Scapuloperoneal spinal muscular atrophy<\/td>SPSMA, New England type<\/td>181405<\/td>TRPV4<\/td><\/td>605427<\/td>SEQ, NGS<\/td>S<\/td>Neuro<\/td> <\/tr>\n
Schopf-Schulz-Passarge syndrome<\/td>SSPS, keratosis, palmoplantaris with cystic eyelids, hypodontia, and hypotrichosis<\/td>606268<\/td>WNT10A<\/td><\/td>606268<\/td>SEQ, MLPA, NGS<\/td>S<\/td>Syndro<\/td> <\/tr>\n
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis<\/td>SANDO, sensory ataxic neuropathy with mitochondrial DNA deletions, autosomal recessive<\/td>607459<\/td>POLG<\/td>POLG1<\/td>174763<\/td>SEQ, MLPA, NGS<\/td>M<\/td>Neuro<\/td> <\/tr>\n
Sessile serrated polyposis cancer syndrome<\/td>SSPCS<\/td>617108<\/td>RNF43<\/td><\/td>612482<\/td>SEQ, NGS<\/td>S<\/td>Neuro<\/td> <\/tr>\n
Short QT syndrome 1<\/td>SQT1<\/td>609620<\/td>KCNH2<\/td><\/td>152427<\/td>SEQ, MLPA, NGS<\/td>S<\/td>Cardio<\/td> <\/tr>\n
Short QT syndrome 2<\/td>SQT2<\/td>609621<\/td>KCNQ1<\/td><\/td>607542<\/td>SEQ, MLPA, NGS<\/td>S<\/td>Cardio<\/td> <\/tr>\n
Short QT syndrome 3<\/td>SQT3<\/td>609622<\/td>KCNJ2<\/td><\/td>600681<\/td>SEQ, MLPA, NGS<\/td>S<\/td>Cardio<\/td> <\/tr>\n
Shprintzen-Goldberg syndrome<\/td>Shprintzen-Goldberg craniosynostosis syndrome<\/td>182212<\/td>SKI<\/td><\/td>164780<\/td>SEQ, NGS<\/td>S<\/td>Syndro<\/td> <\/tr>\n
Shprintzen-Goldberg syndrome<\/td>Shprintzen-Goldberg Craniosynostosis syndrome<\/td>182212<\/td>SKI<\/td><\/td>164780<\/td>SEQ, NGS<\/td>S<\/td>Tissue<\/td> <\/tr>\n
Sick sinus syndrome 1<\/td>SSS1, autosomal recessive<\/td>608567<\/td>SCN5A<\/td><\/td>600163<\/td>SEQ, MLPA, NGS<\/td>S<\/td>Cardio<\/td> <\/tr>\n
Sick sinus syndrome 2<\/td>SSS2, autosomal dominant<\/td>163800<\/td>HCN4<\/td><\/td>605206<\/td>SEQ, NGS<\/td>S<\/td>Cardio<\/td> <\/tr>\n
Sickle cell anemia<\/td>HBS<\/td>603903<\/td>HBB<\/td><\/td>141900<\/td>SEQ, MLPA, NGS<\/td>S<\/td>Coagul<\/td> <\/tr>\n
Sideroblastic Anemia 2, pyridoxine-refractory<\/td><\/td>205950<\/td>SLC25A38<\/td><\/td>610819<\/td>SEQ, NGS<\/td>S<\/td>Coagul<\/td> <\/tr>\n
Sideroblastic Anemia, X-linked<\/td>SIDBA1<\/td>300751<\/td>ALAS2<\/td><\/td>301300<\/td>SEQ, NGS<\/td>S<\/td>Coagul<\/td> <\/tr>\n
Simpson-Golabi-Behmel syndrome, type 2<\/td>SGBS2<\/td>300209<\/td>OFD1<\/td><\/td>300170<\/td>SEQ, NGS<\/td>S<\/td>Syndro<\/td> <\/tr>\n
Smith-Lemli-Opitz syndrome<\/td>SLOS<\/td>270400<\/td>DHCR7<\/td><\/td>602858<\/td>SEQ, MLPA, NGS<\/td>S<\/td>Syndro<\/td> <\/tr>\n
Smith-Magenis syndrome<\/td><\/td>182290<\/td>del17p11.2 (RAI1 gene)<\/td><\/td>607642<\/td>MLPA<\/td>S<\/td>Micro<\/td> <\/tr>\n
Smith-Magenis syndrome<\/td><\/td>182290<\/td>RAI1 (sequencing)<\/td><\/td>607642<\/td>SEQ, MLPA, NGS<\/td>S<\/td>Syndro<\/td> <\/tr>\n
Sorbitol dehydrogenase deficiency with peripheral neuropathy<\/td>SORDD<\/td>618912<\/td>SORD<\/td><\/td>182500<\/td>SEQ, NGS<\/td>S<\/td>Neuro<\/td> <\/tr>\n
Sotos syndrome<\/td>cerebral gigantism<\/td>117550<\/td>NSD1<\/td><\/td>606681<\/td>SEQ, MLPA, NGS<\/td>S<\/td>Syndro<\/td> <\/tr>\n
Spastic ataxia, autosomal recessive, type 5<\/td>SPAX5<\/td>614487<\/td>AFG3L2<\/td><\/td>604581<\/td>SEQ, NGS<\/td>S<\/td>Neuro<\/td> <\/tr>\n
Spastic Ataxia, Charlevoix-Saguenay type<\/td>SACS, spastic ataxia, autosomal recessive type 6, SPAX6, ARSACS<\/td>270550<\/td>SACS<\/td><\/td>604490<\/td>SEQ, MLPA, NGS<\/td>A<\/td>Neuro<\/td> <\/tr>\n
Spastic paralysis, infantile-onset, ascending<\/td>IAHSP<\/td>607225<\/td>ALS2<\/td>KIAA1563<\/td>606352<\/td>SEQ, NGS<\/td>S<\/td>Neuro<\/td> <\/tr>\n
Spastic paraplegia type 1, X-linked,<\/td>SPG1<\/td>303350<\/td>L1CAM<\/td><\/td>308840<\/td>SEQ, MLPA, NGS<\/td>S<\/td>Neuro<\/td> <\/tr>\n
Spastic paraplegia type 10, autosomal dominant,<\/td>SPG10<\/td>604187<\/td>KIF5A<\/td><\/td>602821<\/td>SEQ, NGS<\/td>S<\/td>Neuro<\/td> <\/tr>\n
Spastic paraplegia type 11, autosomal recessive<\/td>SPG11, spastic paraplegia with thin corpus callosum<\/td>604360<\/td>SPG11<\/td>KIAA1840, Spatacsin<\/td>610844<\/td>SEQ, MLPA, NGS<\/td>S<\/td>Neuro<\/td> <\/tr>\n
Spastic paraplegia type 15, autosomal recessive<\/td>SPG15, spastic paraplegia and retinal degeneration, Kjellin syndrome<\/td>270700<\/td>ZFYVE26<\/td>KIAA0321, Spastizin<\/td>612012<\/td>SEQ, NGS<\/td>S<\/td>Neuro<\/td> <\/tr>\n
Spastic paraplegia type 17, autosomal dominant<\/td>SPG17, Silver syndrome<\/td>270685<\/td>BSCL2<\/td><\/td>606158<\/td>SEQ, NGS<\/td>S<\/td>Neuro<\/td> <\/tr>\n
Spastic paraplegia type 20, autosomal recessive<\/td>SPG20, spastic paraplegia with distal muscle wasting, Troyer syndrome<\/td>275900<\/td>SPG20<\/td>KIAA0610, Spartin<\/td>607111<\/td>SEQ, NGS<\/td>S<\/td>Neuro<\/td> <\/tr>\n
Spastic paraplegia type 3, autosomal dominant<\/td>Strumpell disease<\/td>182600<\/td>ATL1<\/td>SPG3A<\/td>606439<\/td>SEQ, MLPA, NGS<\/td>S<\/td>Neuro<\/td> <\/tr>\n
Spastic paraplegia type 31, autosomal dominant<\/td>SPG31<\/td>610250<\/td>REEP1<\/td><\/td>609139<\/td>SEQ, MLPA, NGS<\/td>S<\/td>Neuro<\/td> <\/tr>\n
Spastic paraplegia type 39, autosomal recessive<\/td>SPG39<\/td>612020<\/td>PNPLA6<\/td><\/td>603197<\/td>SEQ, NGS<\/td>S<\/td>Neuro<\/td> <\/tr>\n
Spastic paraplegia type 4, autosomal dominant<\/td>SPG4<\/td>182601<\/td>SPAST<\/td>SPG4<\/td>604277<\/td>SEQ, MLPA, NGS<\/td>S<\/td>Neuro<\/td> <\/tr>\n
Spastic paraplegia type 5 A, autosomal recessive<\/td>SPG5A<\/td>270800<\/td>CYP7B1<\/td><\/td>603711<\/td>SEQ, MLPA, NGS<\/td>S<\/td>Neuro<\/td> <\/tr>\n
Spastic paraplegia type 6, autosomal dominant<\/td>SPG6<\/td>600363<\/td>NIPA1<\/td><\/td>608145<\/td>SEQ, MLPA, NGS<\/td>S<\/td>Neuro<\/td> <\/tr>\n
Spastic paraplegia type 7, autosomal recessive<\/td>SPG7<\/td>607259<\/td>SPG7<\/td><\/td>602783<\/td>SEQ, MLPA, NGS<\/td>S<\/td>Neuro<\/td> <\/tr>\n
Spastic paraplegia type 79, autosomal recessive<\/td>SPG79, neurodegeneration with optic atrophy<\/td>615491<\/td>UCHL1<\/td><\/td>191342<\/td>SEQ, MLPA, NGS<\/td>S<\/td>Neuro<\/td> <\/tr>\n
Spastic paraplegia type 8, autosomal dominant,<\/td>SPG8<\/td>603563<\/td>WASHC5<\/td>KIAA0196<\/td>610657<\/td>SEQ, NGS<\/td>S<\/td>Neuro<\/td> <\/tr>\n
Specific language impairment<\/td>SLI<\/td><\/td>NFXL1<\/td><\/td><\/td>SEQ, NGS<\/td>S<\/td>Syndro<\/td> <\/tr>\n
Spermatogenic failure type 8<\/td>SPGF8<\/td>613957<\/td>NR5A1<\/td><\/td>184757<\/td>SEQ, MLPA, NGS<\/td>S<\/td>Syndro<\/td> <\/tr>\n
Spherocytosis, type 1<\/td>HS1<\/td>182900<\/td>ANK1<\/td><\/td>612641<\/td>SEQ, NGS<\/td>S<\/td>Meta<\/td> <\/tr>\n
Spinal and bulbar muscular atrophy<\/td>SBMA, Kennedy disease<\/td>313200<\/td>AR, CAG repeat in exon 1<\/td><\/td>313700<\/td>REP<\/td>S<\/td>Neuro<\/td> <\/tr>\n
Spinal muscular atrophy distal, congenital, nonprogressive<\/td>Spinal muscular atrophy, distal, congenital benign, with contractures<\/td>600175<\/td>TRPV4<\/td><\/td>605427<\/td>SEQ, NGS<\/td>S<\/td>Neuro<\/td> <\/tr>\n
Spinal muscular atrophy type I<\/td>SMA1, Werdnig-Hoffmann disease<\/td>253300<\/td>SMN1<\/td><\/td>600354<\/td>SEQ, MLPA, NGS<\/td>S<\/td>Neuro<\/td> <\/tr>\n
Spinal muscular atrophy type II<\/td>SMA2<\/td>253550<\/td>SMN1<\/td><\/td>600354<\/td>SEQ, MLPA, NGS<\/td>S<\/td>Neuro<\/td> <\/tr>\n
Spinal muscular atrophy type III<\/td>SMA3<\/td>253400<\/td>SMN1<\/td><\/td>600354<\/td>SEQ, MLPA, NGS<\/td>S<\/td>Neuro<\/td> <\/tr>\n
Spinal muscular atrophy type IV, adult form<\/td>SMA4<\/td>271150<\/td>SMN1<\/td><\/td>600354<\/td>SEQ, MLPA, NGS<\/td>S<\/td>Neuro<\/td> <\/tr>\n
Spinal muscular atrophy, proximal, late-onset, autosomal dominant<\/td>Spinal muscular atrophy Finkel type<\/td>182980<\/td>VAPB<\/td><\/td>605704<\/td>SEQ, NGS<\/td>S<\/td>Neuro<\/td> <\/tr>\n
Spinal muscular atrophy, type III, modifier of<\/td>SMA<\/td>253400<\/td>SMN2<\/td><\/td>601627<\/td>SEQ, MLPA, NGS<\/td>S<\/td>Neuro<\/td> <\/tr>\n
Spinocerebellar ataxia type 1<\/td>SCA1<\/td>164400<\/td>ATXN1 repeat<\/td><\/td>601556<\/td>REP<\/td>S<\/td>Neuro<\/td> <\/tr>\n
Spinocerebellar ataxia type 11<\/td>SCA11<\/td>604432<\/td>TTBK2<\/td><\/td>611695<\/td>SEQ, NGS<\/td>S<\/td>Neuro<\/td> <\/tr>\n
Spinocerebellar ataxia type 12<\/td>SCA12<\/td>604326<\/td>PPP2R2B repeat<\/td><\/td>604325<\/td>REP<\/td>S<\/td>Neuro<\/td> <\/tr>\n
Spinocerebellar ataxia type 15<\/td>SCA15<\/td>606658<\/td>ITPR1<\/td><\/td>147265<\/td>SEQ, MLPA, NGS<\/td>S<\/td>Neuro<\/td> <\/tr>\n
Spinocerebellar ataxia type 17<\/td>SCA17<\/td>607136<\/td>TBP<\/td><\/td>600075<\/td>REP<\/td>S<\/td>Neuro<\/td> <\/tr>\n
Spinocerebellar ataxia type 19<\/td>SCA19<\/td>607346<\/td>KCND3<\/td><\/td>605411<\/td>SEQ, NGS<\/td>S<\/td>Neuro<\/td> <\/tr>\n
Spinocerebellar ataxia type 2<\/td>SCA2<\/td>183090<\/td>ATXN2 repeat<\/td><\/td>601517<\/td>REP<\/td>S<\/td>Neuro<\/td> <\/tr>\n
Spinocerebellar ataxia type 23<\/td>SCA23<\/td>610245<\/td>PDYN<\/td><\/td>131340<\/td>SEQ, NGS<\/td>S<\/td>Neuro<\/td> <\/tr>\n
Spinocerebellar ataxia type 28<\/td>SCA28<\/td>610246<\/td>AFG3L2<\/td><\/td>604581<\/td>SEQ, NGS<\/td>S<\/td>Neuro<\/td> <\/tr>\n
Spinocerebellar ataxia type 29<\/td>SCA29<\/td>117360<\/td>ITPR1<\/td><\/td>147265<\/td>SEQ, MLPA, NGS<\/td>S<\/td>Neuro<\/td> <\/tr>\n
Spinocerebellar ataxia type 3<\/td>SCA3, Machado-Joseph disease<\/td>109150<\/td>ATXN3 repeat<\/td><\/td>607047<\/td>REP<\/td>S<\/td>Neuro<\/td> <\/tr>\n
Spinocerebellar ataxia type 6<\/td>SCA6<\/td>183086<\/td>CACNA1A exon 47 CAG repeat<\/td><\/td>601011<\/td>REP<\/td>S<\/td>Neuro<\/td> <\/tr>\n
Spinocerebellar ataxia type 7<\/td>SCA7<\/td>164500<\/td>ATXN7 repeat<\/td><\/td>607640<\/td>REP<\/td>S<\/td>Neuro<\/td> <\/tr>\n
Spinocerebellar ataxia type 8<\/td>SCA8<\/td>608768<\/td>ATXN8OS repeat<\/td><\/td>603680<\/td>REP<\/td>S<\/td>Neuro<\/td> <\/tr>\n
Spinocerebellar ataxia with epilepsy<\/td>SCAE<\/td>607459<\/td>POLG<\/td>POLG1<\/td>174763<\/td>SEQ, MLPA, NGS<\/td>S<\/td>Neuro<\/td> <\/tr>\n
Spinocerebellar ataxia, autosomal recessive type 1<\/td>AOA2<\/td>606002<\/td>SETX<\/td><\/td>608465<\/td>SEQ, MLPA, NGS<\/td>S<\/td>Neuro<\/td> <\/tr>\n
Split-hand\/foot malformation type 4<\/td>SHFM4<\/td>605289<\/td>TP63<\/td>p63, TP73L<\/td>603273<\/td>SEQ, NGS<\/td>S<\/td>Syndro<\/td> <\/tr>\n
Spondyloarthropathy, susceptibility to, 1,<\/td>SPDA1, Bechterew syndrome<\/td>106300<\/td>HLA-B27<\/td><\/td>142830<\/td>SEQ<\/td>S<\/td>Meta<\/td> <\/tr>\n
Spondylocostal dysostosis 2, autosomal recessive<\/td>SCDO2<\/td>608681<\/td>MESP2<\/td><\/td>605195<\/td>SEQ, NGS<\/td>S<\/td>Tissue<\/td> <\/tr>\n
Spondylocostal dysostosis-1, autosomal recessive<\/td>SCDO1<\/td>277300<\/td>DLL3<\/td><\/td>602768<\/td>SEQ, NGS<\/td>S<\/td>Tissue<\/td> <\/tr>\n
Spondyloepiphyseal dysplasia congenita<\/td>SEDC<\/td>183900<\/td>COL2A1<\/td><\/td>120140<\/td>SEQ, MLPA, NGS<\/td>S<\/td>Tissue<\/td> <\/tr>\n
Spondyloepiphyseal dysplasia tarda, x-linked<\/td>SEDT<\/td>313400<\/td>TRAPPC2<\/td><\/td>300202<\/td>SEQ, NGS<\/td>S<\/td>Tissue<\/td> <\/tr>\n
Spondyloepiphyseal dysplasia, maroteaux type<\/td>SED, pseudo-Morquio syndrome, type 2<\/td>184095<\/td>TRPV4<\/td><\/td>605427<\/td>SEQ, NGS<\/td>S<\/td>Tissue<\/td> <\/tr>\n
Spondylometaphyseal dysplasia, Kozlowski type<\/td><\/td>184252<\/td>TRPV4<\/td><\/td>605427<\/td>SEQ, NGS<\/td>S<\/td>Tissue<\/td> <\/tr>\n
Stargardt disease type 1<\/td>STGD1<\/td>248200<\/td>ABCA4<\/td><\/td>601691<\/td>SEQ, MLPA, NGS<\/td>S<\/td>Sensory<\/td> <\/tr>\n
Stickler syndrome type 2, autosomal dominant<\/td>STL2<\/td>604841<\/td>COL11A1<\/td><\/td>120280<\/td>SEQ, MLPA, NGS<\/td>S<\/td>Tissue<\/td> <\/tr>\n
Stickler syndrome type 3, autosomal dominant<\/td>STL3<\/td>184840<\/td>COL11A2<\/td><\/td>120290<\/td>SEQ, NGS<\/td>S<\/td>Tissue<\/td> <\/tr>\n
Stickler syndrome type 5, autosomal recessive<\/td>STL5<\/td>614284<\/td>COL9A2<\/td><\/td>120260<\/td>SEQ, NGS<\/td>S<\/td>Tissue<\/td> <\/tr>\n
Stickler syndrome type I, autosomal dominant<\/td>STL1<\/td>108300<\/td>COL2A1<\/td><\/td>120140<\/td>SEQ, MLPA, NGS<\/td>S<\/td>Tissue<\/td> <\/tr>\n
Subcortical laminar heterotopia<\/td>SCLH<\/td>607432<\/td>PAFAH1B1<\/td>LIS1<\/td>601545<\/td>SEQ, MLPA, NGS<\/td>S<\/td>Syndro<\/td> <\/tr>\n
Subcortical laminar heterotopia, X-linked<\/td>SCLH<\/td>300067<\/td>DCX<\/td><\/td>300121<\/td>SEQ, MLPA, NGS<\/td>S<\/td>Syndro<\/td> <\/tr>\n
Subtelomeric screening (analysis of all subtelomeric regions by MLPA)<\/td><\/td><\/td><\/td><\/td><\/td>MLPA<\/td>S<\/td>Micro<\/td> <\/tr>\n
Syndactyly type V<\/td>Syndactyly with metacarpal and metatarsal fusion<\/td>186300<\/td>HOXD13<\/td><\/td>142989<\/td>SEQ, MLPA, NGS<\/td>S<\/td>Tissue<\/td> <\/tr>\n
Synpolydactyly type I<\/td>SPD1, syndactyly type II according to Temtamy and McKusick [PMID: 215242]<\/td>186000<\/td>HOXD13<\/td><\/td>142989<\/td>SEQ, MLPA, NGS<\/td>S<\/td>Tissue<\/td> <\/tr>\n
Synpolydactyly with anomalies of the foot<\/td><\/td>186000<\/td>HOXD13<\/td><\/td>142989<\/td>SEQ, MLPA, NGS<\/td>S<\/td>Tissue<\/td> <\/tr>\n
Tay-Sachs disease<\/td><\/td>272800<\/td>HEXA<\/td><\/td>606869<\/td>SEQ, MLPA, NGS<\/td>T<\/td>Meta<\/td> <\/tr>\n
Telangiectasia, hereditary hemorrhagic, type 1<\/td>HHT1, Osler-Rendu-Weber disease type 1<\/td>187300<\/td>ENG<\/td><\/td>131195<\/td>SEQ, MLPA, NGS<\/td>T<\/td>Tissue<\/td> <\/tr>\n
Telangiectasia, hereditary hemorrhagic, type 2<\/td>HHT2, Osler-Rendu-Weber disease type 2<\/td>600376<\/td>ACVRL1<\/td><\/td>601284<\/td>SEQ, MLPA, NGS<\/td>T<\/td>Tissue<\/td> <\/tr>\n
Telangiectasia, hereditary hemorrhagic, type 5<\/td>HHT5<\/td>615506<\/td>GDF2<\/td><\/td>605120<\/td>SEQ, NGS<\/td>T<\/td>Tissue<\/td> <\/tr>\n
Temtamy syndrome<\/td>TEMTYS<\/td>218340<\/td>C12orf57<\/td><\/td>615140<\/td>SEQ, NGS<\/td>T<\/td>Syndro<\/td> <\/tr>\n
Thalassemia, beta<\/td>beta hemoglobinopathy<\/td>613985<\/td>HBB<\/td><\/td>141900<\/td>SEQ, MLPA, NGS<\/td>T<\/td>Coagul<\/td> <\/tr>\n
Thanatophoric dysplasia type I<\/td>TD1<\/td>187600<\/td>FGFR3<\/td><\/td>134934<\/td>SEQ, MLPA, NGS<\/td>T<\/td>Tissue<\/td> <\/tr>\n
Thanatophoric dysplasia type II<\/td>TD2<\/td>187601<\/td>FGFR3<\/td><\/td>134934<\/td>SEQ, MLPA, NGS<\/td>T<\/td>Tissue<\/td> <\/tr>\n
Thoracic aortic aneurysm type 3<\/td>AAT3, FAA3<\/td>610168<\/td>TGFBR2<\/td><\/td>190182<\/td>SEQ, MLPA, NGS<\/td>T<\/td>Tissue<\/td> <\/tr>\n
Thoracic aortic aneurysm type 4<\/td>AAT4, FAA4<\/td>132900<\/td>MYH11<\/td><\/td>160745<\/td>SEQ, MLPA, NGS<\/td>T<\/td>Tissue<\/td> <\/tr>\n
Thoracic aortic aneurysm type 5<\/td>AAT5<\/td>609192<\/td>TGFBR1<\/td><\/td>190181<\/td>SEQ, MLPA, NGS<\/td>T<\/td>Tissue<\/td> <\/tr>\n
Thoracic aortic aneurysm type 6<\/td>AAT6, FAA6<\/td>611788<\/td>ACTA2<\/td><\/td>102620<\/td>SEQ, NGS<\/td>T<\/td>Tissue<\/td> <\/tr>\n
Thoracic aortic aneurysm type 7<\/td>AAT7<\/td>613780<\/td>MYLK<\/td><\/td>600922<\/td>SEQ, NGS<\/td>T<\/td>Tissue<\/td> <\/tr>\n
Thoracic aortic aneurysm type 8<\/td>AAT8<\/td>615436<\/td>PRKG1<\/td><\/td>176894<\/td>SEQ, NGS<\/td>T<\/td>Tissue<\/td> <\/tr>\n
Thoracic aortic aneurysm type 9<\/td>AAT9<\/td>616166<\/td>MFAP5<\/td><\/td>601103<\/td>SEQ, NGS<\/td>T<\/td>Tissue<\/td> <\/tr>\n
Thrombophilia due to antithrombin III deficiency<\/td>AT3D<\/td>613118<\/td>SERPINC1<\/td><\/td>107300<\/td>SEQ, MLPA, NGS<\/td>T<\/td>Coagul<\/td> <\/tr>\n
Thyroid dyshormonogenesis type 2A<\/td><\/td>274500<\/td>TPO<\/td><\/td>606765<\/td>SEQ, MLPA, NGS<\/td>T<\/td>Meta<\/td> <\/tr>\n
Thyroid hormone resistance, generalized, autosomal dominant<\/td>GRTH<\/td>188570<\/td>THRB<\/td><\/td>190160<\/td>SEQ, NGS<\/td>T<\/td>Meta<\/td> <\/tr>\n
Thyroid hormone resistance, generalized, autosomal recessive<\/td>GRTH, Refetoff syndrome<\/td>274300<\/td>THRB<\/td><\/td>190160<\/td>SEQ, NGS<\/td>T<\/td>Meta<\/td> <\/tr>\n
Thyroid hormone resistance, selective pituitary<\/td>PRTH<\/td>145650<\/td>THRB<\/td><\/td>190160<\/td>SEQ, NGS<\/td>T<\/td>Meta<\/td> <\/tr>\n
Thyrotoxic periodic paralysis type 1<\/td>TTPP1<\/td>188580<\/td>CACNA1S<\/td><\/td>114208<\/td>SEQ, MLPA, NGS<\/td>T<\/td>Neuro<\/td> <\/tr>\n
Thyrotoxic periodic paralysis type 2<\/td>TTPP2<\/td>613239<\/td>KCNJ18<\/td><\/td>613236<\/td>SEQ, NGS<\/td>T<\/td>Neuro<\/td> <\/tr>\n
Tietz albinism-deafness syndrome<\/td><\/td>103500<\/td>MITF<\/td><\/td>156845<\/td>SEQ, MLPA, NGS<\/td>T<\/td>Syndro<\/td> <\/tr>\n
Timothy syndrome<\/td>TS, Long QT syndrome with syndactyly<\/td>601005<\/td>CACNA1C<\/td><\/td>114205<\/td>SEQ, NGS<\/td>T<\/td>Cardio<\/td> <\/tr>\n
Tooth agenesis, selective, 3<\/td>STHAG3<\/td>604625<\/td>PAX9<\/td><\/td>167416<\/td>SEQ, NGS<\/td>T<\/td>Syndro<\/td> <\/tr>\n
Tooth agenesis-4 with or without ectodermal dysplasia<\/td>STHAG4, absence of lateral incisors<\/td>150400<\/td>WNT10A<\/td><\/td>606268<\/td>SEQ, MLPA, NGS<\/td>T<\/td>Syndro<\/td> <\/tr>\n
Torsion dystonia type 1<\/td>DYT1<\/td>128100<\/td>TOR1A<\/td><\/td>605204<\/td>SEQ, MLPA, NGS<\/td>T<\/td>Neuro<\/td> <\/tr>\n
Torsion dystonia type 6<\/td>DYT6<\/td>602629<\/td>THAP1<\/td><\/td>609520<\/td>SEQ, MLPA, NGS<\/td>T<\/td>Neuro<\/td> <\/tr>\n
Townes-Brocks syndrome<\/td>TBS<\/td>107480<\/td>SALL1<\/td><\/td>602218<\/td>SEQ, MLPA, NGS<\/td>T<\/td>Syndro<\/td> <\/tr>\n
Transcobalamin II deficiency<\/td><\/td>275350<\/td>TCN2<\/td><\/td>613441<\/td>SEQ, NGS<\/td>T<\/td>Meta<\/td> <\/tr>\n
Treacher-Collins-Franceschetti syndrome<\/td><\/td>154500<\/td>TCOF1<\/td><\/td>606847<\/td>SEQ, MLPA, NGS<\/td>T<\/td>Syndro<\/td> <\/tr>\n
Treacher-Collins-Franceschetti syndrome type 2<\/td><\/td>613717<\/td>POLR1D<\/td><\/td>613715<\/td>SEQ, NGS<\/td>T<\/td>Syndro<\/td> <\/tr>\n
Treacher-Collins-Franceschetti syndrome type 3, autosomal recessive<\/td><\/td>248390<\/td>POLR1C<\/td><\/td>610060<\/td>SEQ, NGS<\/td>T<\/td>Syndro<\/td> <\/tr>\n
Tremor, hereditary essential type 4<\/td>ETM4<\/td>614782<\/td>FUS<\/td><\/td>137070<\/td>SEQ, NGS<\/td>T<\/td>Neuro<\/td> <\/tr>\n
Trichorhinophalangeal syndrome, type I<\/td><\/td>190350<\/td>TRPS1<\/td><\/td>604386<\/td>SEQ, MLPA, NGS<\/td>T<\/td>Tissue<\/td> <\/tr>\n
Trichorhinophalangeal syndrome, type III<\/td><\/td>190351<\/td>TRPS1<\/td><\/td>604386<\/td>SEQ, MLPA, NGS<\/td>T<\/td>Tissue<\/td> <\/tr>\n
Trichothiodystrophy, photosensitive<\/td>TTDP<\/td>601675<\/td>ERCC2<\/td><\/td>126340<\/td>SEQ, NGS<\/td>T<\/td>Geno<\/td> <\/tr>\n
Tuberous sclerosis 1<\/td>TSC1<\/td>191100<\/td>TSC1<\/td><\/td>605284<\/td>SEQ, MLPA, NGS<\/td>T<\/td>Tumor<\/td> <\/tr>\n
Tuberous sclerosis 2<\/td>TSC2<\/td>613254<\/td>TSC2<\/td><\/td>191092<\/td>SEQ, MLPA, NGS<\/td>T<\/td>Tumor<\/td> <\/tr>\n
UV-sensitive syndrome type 2<\/td>UVSS2<\/td>614621<\/td>ERCC8<\/td><\/td>609412<\/td>SEQ, NGS<\/td>U<\/td>Syndro<\/td> <\/tr>\n
Van der Woude syndrome type 1<\/td>VWS1<\/td>119300<\/td>IRF6<\/td><\/td>607199<\/td>SEQ, MLPA, NGS<\/td>V<\/td>Syndro<\/td> <\/tr>\n
Van der Woude syndrome type 2<\/td>VWS2<\/td>606713<\/td>GRHL3<\/td><\/td>608317<\/td>SEQ, MLPA, NGS<\/td>V<\/td>Syndro<\/td> <\/tr>\n
Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations<\/td>RVCLS, cerebroretinal vasculopathy, hereditary, CRV<\/td>192315<\/td>TREX1<\/td><\/td>606609<\/td>SEQ, MLPA, NGS<\/td>V<\/td>Syndro<\/td> <\/tr>\n
Velocardiofacial syndrome<\/td><\/td>192430<\/td>del22q11.2<\/td><\/td><\/td>MLPA<\/td>V<\/td>Micro<\/td> <\/tr>\n
Vitelliform macular dystrophy, type 3<\/td>VMD3<\/td>608161<\/td>PRPH2<\/td><\/td>179605<\/td>SEQ, MLPA, NGS<\/td>V<\/td>Sensory<\/td> <\/tr>\n
Vitreoretinochoroidopathy<\/td>VRCP<\/td>193220<\/td>BEST1<\/td><\/td>607854<\/td>SEQ, MLPA, NGS<\/td>V<\/td>Sensory<\/td> <\/tr>\n
Von Hippel-Lindau syndrome<\/td>VHL<\/td>193300<\/td>VHL<\/td><\/td>608537<\/td>SEQ, MLPA, NGS<\/td>V<\/td>Kidney<\/td> <\/tr>\n
Von Hippel-Lindau syndrome<\/td>VHL<\/td>193300<\/td>VHL<\/td><\/td>608537<\/td>SEQ, MLPA, NGS<\/td>V<\/td>Tumor<\/td> <\/tr>\n
Waardenburg syndrome type 1<\/td>WS1<\/td>193500<\/td>PAX3<\/td><\/td>606597<\/td>SEQ, MLPA, NGS<\/td>W<\/td>Syndro<\/td> <\/tr>\n
Waardenburg syndrome type 2A<\/td>WS2A<\/td>193510<\/td>MITF<\/td><\/td>156845<\/td>SEQ, MLPA, NGS<\/td>W<\/td>Syndro<\/td> <\/tr>\n
Waardenburg syndrome type 2E<\/td>WS2E<\/td>611584<\/td>SOX10<\/td><\/td>602229<\/td>SEQ, MLPA, NGS<\/td>W<\/td>Syndro<\/td> <\/tr>\n
Waardenburg syndrome, type 2D<\/td>WS2D<\/td>608890<\/td>SNAI2<\/td><\/td>602150<\/td>SEQ, MLPA, NGS<\/td>W<\/td>Syndro<\/td> <\/tr>\n
Waardenburg syndrome, type 3<\/td>WS3, Klein-Waardenburg-Syndrom<\/td>148820<\/td>PAX3<\/td><\/td>606597<\/td>SEQ, MLPA, NGS<\/td>W<\/td>Syndro<\/td> <\/tr>\n
Waardenburg syndrome, type 4A<\/td>WS4A<\/td>277580<\/td>EDNRB<\/td><\/td>131244<\/td>SEQ, MLPA, NGS<\/td>W<\/td>Syndro<\/td> <\/tr>\n
Waardenburg syndrome, type 4B<\/td>WS4B<\/td>613265<\/td>EDN3<\/td><\/td>131242<\/td>SEQ, MLPA, NGS<\/td>W<\/td>Syndro<\/td> <\/tr>\n
Waardenburg syndrome, type 4C<\/td>WS4C<\/td>613266<\/td>SOX10<\/td><\/td>602229<\/td>SEQ, MLPA, NGS<\/td>W<\/td>Syndro<\/td> <\/tr>\n
Waardenburg-Shah syndrome, PCWH syndrome<\/td><\/td>609136<\/td>SOX10<\/td><\/td>602229<\/td>SEQ, MLPA, NGS<\/td>W<\/td>Syndro<\/td> <\/tr>\n
Weaver syndrome<\/td>Weaver-Smith syndrome<\/td>277590<\/td>EZH2<\/td><\/td>601573<\/td>SEQ, NGS<\/td>W<\/td>Syndro<\/td> <\/tr>\n
Werner syndrome<\/td><\/td>277700<\/td>WRN<\/td>RECQL2<\/td>604611<\/td>SEQ, NGS<\/td>W<\/td>Syndro<\/td> <\/tr>\n
Werner syndrome, atypical<\/td><\/td><\/td>LMNA<\/td><\/td>150330<\/td>SEQ, MLPA, NGS<\/td>W<\/td>Syndro<\/td> <\/tr>\n
Williams-Beuren syndrome<\/td><\/td>194050<\/td>del7q11.23<\/td><\/td><\/td>MLPA<\/td>W<\/td>Micro<\/td> <\/tr>\n
Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome<\/td>WAGR syndrome, chromosome 11p13 deletion syndrome<\/td>194072<\/td>del11p13 (PAX6, WT1 genes)<\/td><\/td>607108, 607102<\/td>MLPA<\/td>W<\/td>Micro<\/td> <\/tr>\n
Wilson disease<\/td><\/td>277900<\/td>ATP7B<\/td><\/td>606882<\/td>SEQ, MLPA, NGS<\/td>W<\/td>Meta<\/td> <\/tr>\n
Witkop syndrome<\/td>Nail dysplasia with hypodontia<\/td>189500<\/td>MSX1<\/td><\/td>142983<\/td>SEQ, NGS<\/td>W<\/td>Syndro<\/td> <\/tr>\n
Xeroderma pigmentosum, group D<\/td>XPG<\/td>278730<\/td>ERCC2<\/td><\/td>126340<\/td>SEQ, NGS<\/td>X<\/td>Geno<\/td> <\/tr>\n
Xeroderma pigmentosum, group G<\/td>XPG<\/td>278780<\/td>ERCC5<\/td><\/td>133530<\/td>SEQ, NGS<\/td>X<\/td>Geno<\/td> <\/tr>\n
X-linked mental retardation with dystonia, ataxia and seizures<\/td>Partington syndrome<\/td>309510<\/td>ARX<\/td><\/td>300382<\/td>SEQ, MLPA, NGS<\/td>X<\/td>Epi<\/td> <\/tr>\n
X-linked reducing body myopathy-1 with infantile or early childhood onset<\/td>RBMX1A<\/td>300717<\/td>FHL1<\/td><\/td>300163<\/td>SEQ, NGS<\/td>X<\/td>Neuro<\/td> <\/tr>\n
X-linked reducing body myopathy-1 with late childhood or adult onset<\/td>RBMX1B<\/td>300718<\/td>FHL1<\/td><\/td>300163<\/td>SEQ, NGS<\/td>X<\/td>Neuro<\/td> <\/tr>\n
2q32-q33-Microdeletion syndrome<\/td>Glass syndrome<\/td>612313<\/td>SATB2<\/td><\/td>608148<\/td>MLPA<\/td>2<\/td>Micro<\/td> <\/tr>\n
3-hydroxyacyl-CoA dehydrogenase deficiency<\/td>HADH Deficiency<\/td>231530<\/td>HADH<\/td><\/td>601609<\/td>SEQ, NGS<\/td>3<\/td>Meta<\/td> <\/tr>\n
46XY sex reversal type 1<\/td>SRXY1, gonadal dysgenesis, true hermaphroditism<\/td>400044<\/td>SRY<\/td><\/td>480000<\/td>SEQ, MLPA, NGS<\/td>4<\/td>Syndro<\/td> <\/tr>\n
46XY sex reversal type 3<\/td>SRXY3, gonadal dysgenesis<\/td>612965<\/td>NR5A1<\/td><\/td>184757<\/td>SEQ, MLPA, NGS<\/td>4<\/td>Syndro<\/td> <\/tr>\n
5-fluorouracil toxicity<\/td><\/td>274270<\/td>DPYD, exons 11, 13, 14 and 22<\/td><\/td>612779<\/td>SEQ<\/td>5<\/td>Pharma<\/td> <\/tr>\n <\/tbody>\n <\/table>\n \n \n \n<\/div>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t
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MEWIGEN gene list Please find our complete genetic analysis service list below Gene list Download Submission Form Search by: Disease Gene<\/p>\n","protected":false},"author":1,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"footnotes":""},"class_list":["post-76","page","type-page","status-publish","hentry"],"_links":{"self":[{"href":"https:\/\/mewigen.de\/index.php\/wp-json\/wp\/v2\/pages\/76","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/mewigen.de\/index.php\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/mewigen.de\/index.php\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/mewigen.de\/index.php\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/mewigen.de\/index.php\/wp-json\/wp\/v2\/comments?post=76"}],"version-history":[{"count":226,"href":"https:\/\/mewigen.de\/index.php\/wp-json\/wp\/v2\/pages\/76\/revisions"}],"predecessor-version":[{"id":3936,"href":"https:\/\/mewigen.de\/index.php\/wp-json\/wp\/v2\/pages\/76\/revisions\/3936"}],"wp:attachment":[{"href":"https:\/\/mewigen.de\/index.php\/wp-json\/wp\/v2\/media?parent=76"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}