OMIM#

229300


Gen FXN  (9q21.11) 


Inheritance Autosomal recessive.


MutationsGAA-repeat expansion. Few  (2 %)are compound heterozygotes due to the exanded allel and a rare FXN mutations.


Specimen7,5 ml blood in EDTA-glass.


Analysis
Southern blotting analysis.


DeliveryMail. Monday to Friday.

Turn around time8 weeks.


Prenatal diagnosisOnly by prior arrangement and only for known mutations.
turn around time: less than 2 weeks, contact the attending for further information.