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Paediatric Laboratory Medicine

Duchenne Muscular Dystrophy: DMD Deletion/Duplication 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 Deletion/Duplication Analysis

Alternate Name/ Synonym

  • DMD
  • DMD-associated dilated cardiomyopathy

Gene Name

  • DMD

Alternate Gene Name


Test Code



Molecular Genetics


Deletion/duplication analysis via MLPA

External Proficiency Testing


Turn Around Time

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




Duchenne Muscular Dystrophy

Specimen Type

Blood; we will not accept extracted DNA for this test.

If sending a prenatal sample, please contact the laboratory prior to sending sample to discuss sample requirements.

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

Minimum Specimen Requirements

5-10 mL EDTA or ACD
0.5 mL EDTA (neonate)


Room Temperature

Special Requirements

Special Instructions for Genome Diagnostics Samples

If sample shipment >48 hours, ship on ice.

Approval is not required

CPT Codes


Shipping and Contact Information

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


Interpretation is provided in report