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

2011241
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Example Reports
Duplication
Negative
Positive

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Additional Technical Information

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Patient History for Duchenne/Becker Muscular Dystrophy (DMD)

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), 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: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable

Reference Interval

By Report

Interpretive Data

Refer to report.

This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the US Food and Drug Administration. This test was performed in a CLIA certified laboratory and is intended for clinical purposes.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

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

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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