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Duchenne/Becker Muscular Dystrophy

DMD/BMD

Test Codes

Baylor: 6350, Testing requires pathology approval prior to collection.

Department

Send Outs

Instructions

This test is not included in the Beaumont Laboratory testing formulary, however, the Laboratory can facilitate specimen collection.

• This test requires pathology review. Contact the Send Outs Laboratory at 248-551-9045 before ordering this test.
• Testing requires the ordering physician to complete forms for the independent clinical laboratory performing the testing.
• This test will be billed to the patient's insurance. If not covered by insurance, the patient is responsible for the full cost of testing.
• Specimens received without the appropriate forms and information will not be shipped.
• Once approved, order test as a Miscellaneous Send Out (XMISC). 

Specimen Collection Criteria

Collect: Two Lavender-top EDTA tubes, after obtaining necessary pathology approval (Minimum: 4.0 mL Adults) (Minimum: 2.0 mL Children).

Physician Office/Draw Specimen Preparation

Do not centrifuge. Maintain whole blood at room temperature (20-26°C or 68-78.8°F) prior to transport. Pathology review and all appropriate forms must be completed prior to specimen transport.

Preparation for Courier Transport

Transport: 5.0 mL whole blood with all appropriate forms and information, at room temperature (20-26°C or 68-78.8°F) (Minimum: 4.0 mL Adults) (Minimum: 2.0 mL Children).

Rejection Criteria

• Specimens received without prior Laboratory notification and review.
• Specimens not collected and processed as indicated.

In-Lab Processing

Do not centrifuge. Maintain whole blood at room temperature (20-26°C or 68-78.8°F) prior to transport.

Transport: 5.0 mL whole blood with all appropriate forms and information, at room temperature (20-26°C or 68-78.8°F) (Minimum: 4.0 mL Adults) (Minimum: 2.0 mL Children).

Storage

Specimen Stability for Testing:

Room Temperature (20-26°C or 68-78.8°F): 7 days
Refrigerated (2-8°C or 36-46°F): 7 days
Frozen (-20°C/-4°F or below): Unacceptable

Specimen Storage in Department Prior to Disposal:

Specimen retention time is determined by the policy of the reference laboratory. Contact the Send Outs Laboratory with any questions.

Laboratory

Sent to Baylor Genetics, Houston, TX.

Performed

Varies.
Results available in 4 weeks.

Reference Range

By report.

Test Methodology

High resolution array CGH.

Interpretation

By report.

Clinical Utility

This test is indicated for:

• Males with a clinical diagnosis or symptoms of Duchenne or Becker muscular dystrophy.
• Females who are at risk to be a carrier or have a family history of Duchenne or Becker muscular dystrophy.
• Individuals with previous deletion/duplication test results that do not clearly identify the breakpoints and size of the deletion or duplication.

CPT Codes

81161

Contacts

Last Updated

10/3/2023