Spinocerebellar Ataxia Type 2 via the ATXN2 CAG Repeat Expansion
Use
This test is for individuals with relevant clinical features who have a clinical or suspected diagnosis of spinocerebellar ataxia type 2 (SCA2), as well as family members of individuals with a known ATXN2 CAG repeat expansion. The test helps to confirm the diagnosis by identifying the presence of a repeat expansion in the ATXN2 gene, which is characteristic of this condition.
Special Instructions
Ensure that the blood, buccal, or saliva sample is collected using appropriate kits. For family testing, include demographics such as name, date of birth, identification number, and relationship on the proband report.
Limitations
The test may not detect all clinically relevant repeat expansions or mutations in the ATXN2 gene. Results should be interpreted in the context of clinical presentation and family history. False negatives and positives can occur, particularly if the sample quality is compromised.
Methodology
PCR-based (Repeat-Primed 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