Recessive ataxias : gene panel
Speciality(ies) / Other Speciality(ies)
Test / Mutation List
AFG3L2, ANO10, ATM, COQ8A, MRE11, MTPAP, MTTP, PIK3R5, POLG, SACS, SETX, SIL1, SPTBN2, SYNE1, SYT14, TDP1, ZNF592
3 to 4 months
Peripheral blood in EDTA tube (3 to 6mL); stable for 48h at room temperature (RT) or 72h refrigerated
DNA (>5μg with concentration >20ng/μL); stable for 48h at room temperature (RT) or >48h refrigerated
For other samples types, please contact the laboratory.