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Paediatric Laboratory Medicine

Duchenne Muscular Dystrophy: DMD mRNA Analysis

Clinical Significance

Duchenne muscular dystrophy (DMD) is one of the most common inherited diseases, occurring once in every 3,500 males. It is characterized by progressive muscle weakness, inability to walk after age 12, serious respiratory infections by age 14 to 18, and respiratory failure in the 20s to 30s.

Becker muscular dystrophy (BMD) has a similar disease course to DMD, but with slower onset and progression. BMD is also less common, occurring once in every 35,000 males. Both DMD and BMD are caused by mutations in the dystrophin gene on the X chromosome.

Test Name

Duchenne Muscular Dystrophy: DMD mRNA Analysis

Alternate Name/ Synonym

  • DMD
  • DMD-associated dilated cardiomyopathy

Gene Name

  • DMD

Alternate Gene Name

BMD

Test Code

DMD

Division

Molecular Genetics

Method

mRNA analysis

External Proficiency Testing

CAP

Turn Around Time

2 weeks (Prenatal samples), 2-3 weeks (Pregnancy/Urgent samples), 4-6 weeks (Routine)

Protein

Dystrophin

Disease/Condition

Duchenne Muscular Dystrophy

Specimen Type

Frozen muscle tissue; we will not accept extracted DNA for this test.

For details about specimen requirements, please refer to: Specimen Type & Requirements (PDF).

Minimum Specimen Requirements

See above

Storage/Transportation

  • Storage at -80ºC;
  • Shipment on dry ice

Special Requirements

Special Instructions for Genome Diagnostics Samples

Approval is not required

CPT Codes

81479

Shipping and Contact Information

The Hospital for Sick Children
Rapid Response Laboratory
170 Elizabeth Street, Room 3642
Toronto, ON
M5G 2G3
Canada
Phone: 416-813-7200
Phone: 1-855-381-3212

Interpretation

Interpretation is provided in report