Casandra
Casandra Test Code GE77232Version 1 (DRAFT)
Performing Lab
Spinocerebellar Ataxia Type 6 Repeat Analysis
Clinical Use
Order TestUse
Diagnostic testing for individuals with clinical features or family history suggestive of spinocerebellar ataxia type 6, which is caused by CAG trinucleotide repeat expansions in the CACNA1A gene.
Special Instructions
Orderable as a single‑gene repeat expansion analysis. Found on GeneDx neurology requisition form under test code TH87, alongside other single‑gene and panel options for spinocerebellar ataxia repeat expansions.
Limitations
Detects only CAG repeat expansion size in CACNA1A; does not detect sequence variants or other mechanisms; repeat sizing may have limitations in range depending on assay.
Test Details
Methodology
PCR-based (PCR)
Biomarkers
CACNA1A
GeneCAG repeat size • Concentration / Level • Quantitative (Continuous) (e.g., copies/mL, % expression)
Result Turnaround Time
14-28 days
Related Documents
For more information, please review the documents below
Specimen Requirements
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided