OMIM# | |
Gen | FXN (9q21.11) |
Inheritance | Autosomal recessive. |
Mutations | GAA-repeat expansion. Few (2 %)are compound heterozygotes due to the exanded allel and a rare FXN mutations. |
Specimen | 7,5 ml blood in EDTA-glass. |
Analysis | Southern blotting analysis. |
Delivery | Mail. Monday to Friday. |
Turn around time | 8 weeks. |
Prenatal diagnosis | Only by prior arrangement and only for known mutations. turn around time: less than 2 weeks, contact the attending for further information. |