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Athena #119 FRDA Ataxia
MessageThe Complete Ataxia Evaluation (#597) is recommended unless a family member has been confirmed by prior molecular tests. Prenatal testing is available for this test. Detects GAA triplet repeat expansion in the Frataxin gene
Test Code
119
CPT Codes
81401(1)
Preferred Specimen
Whole Blood
Minimum Volume
20 mL
Transport Container
Lavender top (EDTA)
Transport Temperature
Room temp ship within 24 hours
Specimen Stability
Refrigerate
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
Frozen
Methodology
Polymerase Chain Reaction (PCR), Fragment analysis and Southern blot
Setup Schedule
Monday - Thursday
Report Available
14-21 days
Reference Range
Normal: < 33 GAA trinucleotide repeats