DMPK Repeat Analysis
Use
Molecular confirmation of a clinical diagnosis, specifically of myotonic dystrophy type 1 (DMPK-related dystrophia myotonica / Steinert disease), providing diagnostic clarity and risk assessment for at‑risk family members.
Special Instructions
Repeat analysis of DMPK for at‑risk family members can be ordered through test code 818.
Limitations
The test identifies repeat expansions via PCR fragment analysis and Asuragen AmplideX PCR/CE DMPK kit; alleles up to 50 repeats are reported with ±2 repeat accuracy, alleles 50‑200 repeats with ±5 repeat accuracy; exact sizing beyond 200 repeats cannot be determined. Southern blot analysis is required for sizing larger expansions but is not part of this test.
Methodology
PCR-based (PCR)
Biomarkers
Result Turnaround Time
21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
2–5 mL
Minimum Volume
Not provided
Container
Lavender Top Tube