Duchenne Muscular Dystrophy

Alternate test name

Duchenne / Becker Muscular Dystrophy

Gene name / Alternate gene name

Protein

Dystrophin

Lab area

Genome Diagnostics - Molecular Genetics

Method and equipment

Deletion/duplication analysis via MLPA; mRNA Analysis; Sequencing

Expected turn-around time

Prenatal samples: 2 weeks Pregnancy/STAT: 2-3 weeks Routine: 4-6 weeks

Specimen type

Blood; extracted DNA will not be accepted for the MLPA or mRNA analysis portion of 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).

Specimen requirements

Blood: 5-10 mL in EDTA, 0.5 mL in EDTA (neonate);
DNA-minimum 10 ug in 100 uL low TE (pH8.0)
Frozen muscle tissue (mRNA analysis)

Storage and transportation

Blood-Room Temperature

mRNA Analysis

Storage at -80ºC;
Shipment on dry ice

For details about specimen requirements, please refer to: Specimen Type and Requirements

DNA extracted at an external lab is not accepted for MLPA for mRNA testing.

Special requirements

Special Instructions for Genome Diagnostics Samples

If sample shipment >48 hours, ship on ice.

Shipping information

The Hospital for Sick Children

Division of Genome Diagnostics

555 University Avenue, Black Wing, Room 3416

Toronto, ON

Canada

M5G 1X8

Phone: 416-813-7200 ext. 2

Hours: Monday to Friday, 8 a.m. to 4:30 p.m.

Off hours: Please send to Rapid Response Laboratory, 555 University Avenue, Room 3642

Email Molecular Lab: molecular.lab@sickkids.ca

Email Cytogenetics: cytogenetics.requests@sickkids.ca

Requisition

Duchenne Muscular Dystrophy - requisition

Background and 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.

See related information sheet: Duchenne Muscular Dystrophy

Disease condition

Duchenne Muscular Dystrophy