FXN - Friedreich ataxia
This test is available for the following conditions:
- Conditions > Neurological > Friedreich Ataxia
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES iron disorders (% *)
- WES Mendelian inherited disorders (% *)
- WES mitochondrial disorders (% *)
- WES neuropathies¹ (% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
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
FXN - Friedreich ataxia (additional testing)
This test is available for the following conditions:
- Conditions > Neurological > Friedreich Ataxia
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES iron disorders (% *)
- WES Mendelian inherited disorders (% *)
- WES mitochondrial disorders (% *)
- WES neuropathies¹ (% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
- Deletion/duplication analysis (MLPA)
These are additonal tests in case of one detected repeat expansion (in case of affected individual). Or regarding carrier testing. For more questions/advice please contact us.
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane