Ordering Recommendation

Most comprehensive test for confirming carrier status or diagnosis of Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD).

New York DOH Approval Status

Testing is not New York state approved. Specimens from New York clients will be sent out to a New York state-approved laboratory.

Specimen Required

Patient Preparation
Collect

Lavender or pink (EDTA), or yellow (ACD solution A or B).

Specimen Preparation

Transport 3 mL whole blood. (Min: 2 mL)

Storage/Transport Temperature

Refrigerated.

Unacceptable Conditions

Serum or plasma; grossly hemolyzed or frozen specimens

Remarks
Stability

Ambient: 1 week; Refrigerated: 1 month; Frozen: Unacceptable

Methodology

Multiplex Ligation-Dependent Probe Amplification (MLPA)/Massively Parallel Sequencing

Performed

Varies

Reported

7-14 days
If reflexed, add 10-15 days.

Reference Interval

By Report

Interpretive Data

Refer to report.

Compliance Category

Laboratory Developed Test (LDT)

Note

Deletion/duplication analysis is performed on all samples. If no large deletions or duplications are detected and/or results do not explain the clinical scenario, then sequencing of the DMD gene will be added. Additional charges apply.

Hotline History

N/A

CPT Codes

81161; if reflexed, add 81408

Components

Component Test Code* Component Chart Name LOINC
2011242 Duchenne/Becker MD (DMD) Reflex Specimen 31208-2
2011243 Duchenne/Becker MD (DMD) DelDup MLPA 75385-5
2011244 Duchenne/Becker MD (DMD) Reflex Interp 22075-6
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.

Aliases

  • Dystrophinopathies
Duchenne/Becker Muscular Dystrophy (DMD) Deletion/Duplication with Reflex to Sequencing