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
If ordering as part of family testing, ensure that familial consenting procedures are followed. Coordination with healthcare providers for genetic counseling is recommended, especially for family members being tested. Use the form provided to fax your order if you're not using the online system.
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
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