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

Gene

FXN - Friedreich ataxia

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 377

FXN - Friedreich ataxia



€ 377
Gene

FXN - Friedreich ataxia (additional testing)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 495

FXN - Friedreich ataxia (additional testing)



€ 495

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:

  • 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

  • Sequence analysis of all coding exons and flanking intron-exon boundaries
  • Deletion/duplication analysis (MLPA)
Remarks
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




€ 495