NL
FXN - Friedreich ataxia
This test is available for the following conditions:
- Conditions > Neurological > Friedreich Ataxia
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Iron disorders panel
- Mendelian inherited disorders panel with genome wide CNV analysis
- Mitochondrial disorders panel
- Neuropathies panel¹
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- PCR followed by fragment (length) analysis
- Detection of (expanded) repeats using fragment length analysis of triple primed PCR product.
OMIM:
606829
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
€ 377
