Myotonic Dystrophy 1 (DMPK) Genetic Testing (Repeat Expansion)

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Turnaround Time: 2-4 weeks
CPT Code:


Test Type: 4 mL Whole Blood


Use: Type 1 myotonic dystrophy results from a mutation in the DMPK gene known as a trinucleotide repeat expansion. This mutation increases in the size of the repeated CTG segment in the DMPK gene. People with type 1 myotonic dystrophy have from 50 to 5,000 CTG repeats in most cells. The number of repeats may be even greater in certain types of cells, such as muscle cells.

Limitations: Maximum reportable sizing: 150 repeats.

This test was developed and its performance characteristics determined by LabCorp. It has not been cleared or approved by the Food and Drug Administration.

Methodology: Repeat-Primed PCR (QP-PCR)


Collection Details:

Collection Instructions:

Specimen: Whole blood

Volume: 4 mL

Minimum Volume: 1 mL

Container: Lavender-top (EDTA) tube

Collection: Draw blood into EDTA tube.

Storage Instructions: Ship ASAP, but stable up to 5 days post-collection at room temperature. Do not freeze.