Duchenne/Becker Muscular Dystrophy (DMD) Sequencing

2011153
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Example Reports
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Additional Technical Information

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Patient History for Duchenne/Becker Muscular Dystrophy (DMD)
Ordering Recommendation

Order ONLY if previous DMD gene deletion/duplication testing did not identify a causative variant. Recommended first-tier tests are DMD Deletion/Duplication with Reflex to Sequencing (2011241) or DMD Deletion/Duplication (2011235).

Mnemonic
DMD SEQ
Methodology

Massively Parallel Sequencing

Performed

Varies

Reported

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: 1 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. 

Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.

Compliance Category

Laboratory Developed Test (LDT)

Note
Hotline History
N/A
CPT Codes

81408

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Components
Component Test Code* Component Chart Name LOINC
2011210 DMD Sequencing Specimen 31208-2
2011211 DMD Sequencing Interpretation 50626-1
* 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) Sequencing