Machado-Joseph Disease (MJD)/Spinocerebellar Ataxia Type 3 (SCA3) via the ATXN3 CAG Repeat Expansion
Use
This test is designed for individuals with clinical features or a suspected diagnosis of Spinocerebellar Ataxia Type 3 (SCA3), also known as Machado-Joseph Disease (MJD). It is also suitable for family members of individuals who have a known ATXN3 CAG repeat expansion, in order to determine their genetic status regarding the disease.
Special Instructions
Not provided.
Limitations
The primary limitation of this test is its focus on the ATXN3 gene CAG repeat expansion, which is specific for diagnosing SCA3/MJD. Other genetic causes of spinocerebellar ataxia or similar neurological disorders would not be detected by this assay. The test does not cover mutations or variants outside of this specific repeat expansion.
Methodology
PCR-based (Fragment Analysis)
Biomarkers
No genes
Gene
Result Turnaround Time
5-10 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided