Casandra
Casandra Test Code PG69974Version 1 (DRAFT)
Performing Lab
Lab Prevention GeneticsLab Test ID 5999
Dentatorubral-Pallidoluysian Atrophy (DRPLA) via the ATN1 CAG Repeat Expansion
Clinical Use
Order TestUse
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
Not provided.
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.
Test Details
Methodology
PCR-based (Repeat-Primed PCR)
Biomarkers
ATN1
GeneRepeat size
Genotype • Quantitative (Continuous) (e.g., copies/mL, % expression)
Result Turnaround Time
1-2 weeks
Related Documents
For more information, please review the documents below
Specimen Requirements
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided