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Laboratory Test Directory

DMD Gene Sequencing

Components

Name Method Department Units
DMD Gene Sequencing Sanger sequencing
Polymerase chain reaction (PCR)
Analysis of the entire coding region: Sequence analysis
DNA extraction
Molecular Genetics

Specimen Requirements

Whole blood

Container Type Container Size Specimen Volume
Preferred

Purple tube (EDTA)

4 mL 4 mL-8 mL
Stability

Room temperature - 24 hour(s)
Refrigerated - 72 hour(s)

Specimen Preparation

  • Do not freeze
  • Do not centrifuge

Reasons for Rejection

  • Centrifuged specimen
  • Clotted specimen
  • Frozen specimen
  • Wrong collection tube

Comments

Please click on the Lab Form Link in the Forms Section to print and complete the Genetic Test Requisition Form. Submission of completed Genetic Test Requisition Form is required, and submission of informed consent form is recommended but not requied. Please send clinical information with Requisition Form.

This test is is a full gene sequencing analysis of the DMD gene. **NOTE: This test does NOT include deletion/duplicatoin analysis of this gene. 

The DMD gene is located on the X chromosome and encodes the dystrophin protein. Pathogenic variants (mutations) in the DMD gene cause a group of muscule disease called the dystrophinopathies. Dystrophinopathies are inherited in an X-linked manner and include disorders such as Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (dilated cardiomyopathy 3B). Although a majority of Duchenne muscular dystrophy (55-75%) and Becker muscular dystrophy (75-90%) are caused by pathogenic deletions and duplications in the DMD gene that are detectable by DMD deletion/duplication analysis, about 20-30% of Duchenne muscular dystrophy and 10-20% of Becker muscular dystrophy are caused by pathogenic sequence variants in the DMD gene that are detectable by DMD sequence analysis. Other laboratory findings associated with dystrophinopathies include elevated serum CK (creatine phosphokinase) level and reduced dystrophin quantity on Western blot or immunohistochemistry done skeletal muscle biopsy sample.

Targeted familial variant analysis is available in cases where a DMD sequence variant has been previously identified in the family (see Test Code: FMLIS).

Forms

Lab Form

CPT Code

  • 81408