2011153
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Duchenne/Becker Muscular Dystrophy ( DMD ) Sequencing

DMD SEQ
Example Reports
Negative
Positive

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Duchenne/Becker Muscular Dystrophy Genetic Testing Patient History Form

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Informed Consent for Genetic Testing (Required for NY Patients)

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Additional Technical Information

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).

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) 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

Refrigerated.

Unacceptable Conditions
Remarks
Stability

Ambient: 72 hours; Refrigerated: 2 weeks; Frozen: Unacceptable
New York State Clients: Ambient: 24 hours; Refrigerated: 1 week; Frozen: Unacceptable

Methodology

Massively Parallel Sequencing

Performed

Varies

Reported

10-15 days

Reference Interval

Refer to report

Interpretive Data

Refer to report.

Compliance Category

Laboratory Developed Test (LDT)

Note

When testing cord blood specimens, the presence of maternal cell contamination (MCC) is possible, which may impact result interpretation. If clinically warranted, testing for MCC is available, at a charge, through ARUP Laboratories.

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