Casandra
Casandra Test Code PG36924Version 1 (DRAFT)
Performing Lab
Lab Prevention GeneticsLab Test ID 7501
X-linked Spinal and Bulbar Muscular Atrophy (Kennedy Disease) via the AR Gene CAG Repeat Expansion
Clinical Use
Order TestUse
This test is intended for individuals with a clinical or suspected diagnosis of spinal and bulbar muscular atrophy, particularly males aged 30-50 who show signs of androgen insensitivity.
Special Instructions
The test uses Repeat-Primed PCR and Fragment Length analysis methods. STAT testing is available, reducing the turnaround time to 6-10 days.
Limitations
This test is specifically designed to detect expansions in the CAG repeat region of the AR gene. Other types of mutations within the AR gene may not be detected, and it does not evaluate other genetic or environmental factors that may contribute to the phenotype.
Test Details
Methodology
PCR-based (PCR)
Biomarkers
AR
GeneCAG Repeat Expansion • Genotype • Categorical (e.g., Positive / Negative / Indeterminate)
Result Turnaround Time
7-14 days
Related Documents
For more information, please review the documents below
Specimen Requirements
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided