Ordering Recommendation

Appropriate first-tier genetic test for diagnostic testing or carrier screening for Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD); does not detect sequence variants. Recommended test for a known familial DMD large deletion or duplication previously identified in a family member.

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 (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).
New York State Clients: Lavender (EDTA)

Specimen Preparation

Transport 3 mL whole blood. (Min: 1 mL)
New York State Clients: 5 mL  (Min: 2 mL)

Storage/Transport Temperature

Preferred transport temp: Refrigerated. Also acceptable: Room temperature.
New York State Clients: Refrigerated

Unacceptable Conditions
Remarks
Stability

Room temperature: 1 week ; Refrigerated: 1 month; Frozen: Unacceptable
New York State Clients: Ambient: 24 hours; Refrigerated: 1 week; Frozen: Unacceptable

Methodology

Multiplex Ligation-Dependent Probe Amplification (MLPA)

Performed

Varies

Reported

7-14 days

Reference Interval

By report

Interpretive Data

Refer to report.

Compliance Category

Laboratory Developed Test (LDT)

Note

Hotline History

N/A

CPT Codes

81161

Components

Component Test Code* Component Chart Name LOINC
2011236 Duchenne/Becker MD (DMD) DelDup Specimen 66746-9
2011237 Duchenne/Becker MD (DMD) DelDup Interp 21247-2
* 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

Duchenne/Becker Muscular Dystrophy (DMD) Deletion/Duplication