Friedreich Ataxia

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

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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

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