Ordering Recommendation

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

Mnemonic
DMD REFLEX
Methodology

Multiplex Ligation-dependent Probe Amplification/Massively Parallel Sequencing

Performed

Varies

Reported

Within 2 weeks, if reflexed add 2-4 weeks

New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
Specimen Required
Patient Preparation
Collect

Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).

Specimen Preparation

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

Storage/Transport Temperature

Refrigerated.

Unacceptable Conditions
Remarks
Stability

Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable

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