Spinocerebellar Ataxia Type 17 via the TBP CAG/CAA Repeat Expansion
Use
This test is suitable for individuals who have features indicative of Spinocerebellar Ataxia Type 17 (SCA17) or have a familial predisposition to SCA17. It is also intended for patients with Huntington disease-like symptoms who have tested negative for Huntington disease, providing further clarity and diagnosis options.
Special Instructions
STAT testing option is available, which will expedite the results but will incur an additional 25% fee. Standard institutional pricing can be checked upon login.
Limitations
This test was developed and its performance characteristics validated by PreventionGenetics under CAP and CLIA regulations. However, it has not been approved by the US FDA, which may limit its use in some clinical scenarios. Genetic testing cannot substitute for clinical diagnosis and should be used in conjunction with other diagnostic tools. The interpretation of variants relies heavily on the clinical information provided by healthcare providers.
Methodology
PCR-based (PCR)
Biomarkers
Result Turnaround Time
6-10 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided