MEWIGEN Repeat Expansion
Please find our various analysis services below
MEWIGEN offers the detection of abnormal expansions in repetitive sequences for repeat disorders by fluorescence-based fragment length analyses and, if indicated due to the possibility of very long expansions, repeat-primed PCR. Sequencing is performed if the composition of the repeat (interruptions) is clinically relevant. The turnaround time is about 3 weeks.
| Gene | Condition | OMIM phenotype |
| ATXN1 | Spinocerebellar ataxia 1 ; SCA1 | 164400 |
| ATXN2 | Spinocerebellar ataxia 2; SCA2 susceptibility to late-onset Parkinson disease | 183090 168600 |
| ATXN3 | Machado-Joseph disease; MJD | 109150 |
| CACNA1A | Spinocerebelläre Ataxie Typ 6, SCA6 | 183086 |
| ATXN7 | Spinocerebellar ataxia 7; SCA7 | 164500 |
| ATXN8OS | Spinocerebellar ataxia 8; SCA8 susceptibility to Parkinson disease | 608768 168600 |
| PPP2R2B | Spinocerebellar ataxia 12; SCA12 | 604326 |
| TBP | Spinocerebellar ataxia 17; SCA17 susceptibility to Parkinson disease | 607136 168600 |
| AR | Spinobulbäre Muskelatrophie, Kennedy-Krankheit; SMAX1 | 313200 |
| C9orf72 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1; FTDALS1 | 105550 |
| FXN | Friedreich ataxia; FRDA | 229300 |
| HTT | Huntington disease; HD | 143100 |
| JPH3 | Huntington disease-like 2; HDL2 | 606438 |
| PABPN1 | Oculopharyngeal muscular dystrophy; OPMD | 164300 |