Test Name & Code:
• Test Name: Friedreich Ataxia Mutation Analyis
• Test Code: 2419
• Test Code: 2419
Related Diseases & Genes:
• Friedreich ataxia with retained reflexes (OMIM #: 229300) || Gene: FXN (OMIM #: 606829)
• Friedreich ataxia (OMIM #: 229300)
• Friedreich ataxia (OMIM #: 229300)
Synonyms:
• FRIEDREICH ATAXIA 1
• FRDA1
• FXN Gene Mutation Analysis
• Frataxin Mutation
• FA
• X25 Gene Mutation Analysis
• FRDA1
• FXN Gene Mutation Analysis
• Frataxin Mutation
• FA
• X25 Gene Mutation Analysis
Test Details:
• Methodology: PCR
• Performed: Everyday
• Reported: 2 weeks
• Performed: Everyday
• Reported: 2 weeks
Specimen Details:
• Specimen Collection: Peripheral blood
• Container: Tube with EDTA
• Specimen Volume/Amount: > 5 ml
• Storage/Transport Condition: Refrigerated
• Unacceptable Specimens/Conditions: Serum; Frozen specimens; Hemolyzed specimens; Icterus; Lipemia
• Container: Tube with EDTA
• Specimen Volume/Amount: > 5 ml
• Storage/Transport Condition: Refrigerated
• Unacceptable Specimens/Conditions: Serum; Frozen specimens; Hemolyzed specimens; Icterus; Lipemia
Testing Area(s):
• Neurogenetics
