DMPK DNA Test (DM1)
Use
Detects CTG repeat expansions in the muscle protein kinase (DMPK) gene. This test assists in the diagnosis of myotonic dystrophy type 1, characterized by a variety of symptoms including muscle weakness and wasting, cardiac issues, eye problems, and myotonia. Infants may present with severe hypotonia, skeletal deformities, and developmental delays.
Special Instructions
Collection date is required. The test is not available for order in New York State. Specimens should be sent ambient.
Limitations
This test specifically detects expansions in the CTG repeat within the DMPK gene associated with myotonic dystrophy type 1. It may not detect small changes or mutations outside the tested region. Deletions, duplications, and repeat expansions in other genes will not be detected by this assay.
Methodology
PCR-based (Long Read Sequencing)
Biomarkers
Result Turnaround Time
14-32 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
8 mL
Minimum Volume
6 mL
Container
Lavender top (EDTA)
Collection Instructions
Draw blood in a lavender-top (EDTA) tube. Invert several times to mix. Send ambient.
Storage Instructions
Ambient or refrigerated for up to 10 days.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 10 days |
| Refrigerated | 10 days |