Dentatorubral-Pallidoluysian Atrophy (DRPLA) via the ATN1 CAG Repeat Expansion
Use
This test is intended for individuals with clinical or suspected diagnosis of dentatorubral-pallidoluysian atrophy (DRPLA) or for family members of individuals with a known ATN1 CAG repeat expansion. It aids in confirming the diagnosis and facilitates better understanding of the patient's genetic status.
Special Instructions
Testing can be expedited with STAT processing for an additional surcharge. Institutional pricing available upon signing in. Orders can be placed using standard institutional procedures or the downloadable test requisition form.
Limitations
The test is specific for the ATN1 CAG repeat expansion and is not a comprehensive analysis of the ATN1 gene or other potential genetic contributors to symptoms. Negative results do not rule out other genetic factors that could contribute to the clinical presentation.
Methodology
PCR-based (Repeat-Primed PCR)
Biomarkers
Result Turnaround Time
1-2 weeks
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided