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Duchenne/Becker Muscular Dystrophy (DMD) Deletion/Duplication with Reflex to Sequencing
2011241
Ordering Recommendation

Preferred test for confirming carrier status or diagnosis of DMD/BMD.

Mnemonic
DMD REFLEX
Methodology
Multiplex Ligation-dependent Probe Amplification/Massively Parallel Sequencing
Performed
Varies
Reported
Within 35 days
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
ARUP Consult®
Disease Topics
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 Statement C: For human genetic inheritable conditions and mutations. This test was developed and its performance characteristics determined by ARUP Laboratories. The U. S. Food and Drug Administration has not approved or cleared this test; however, FDA clearance or approval is not currently required for clinical use. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions.

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

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 Code(s)
Components
Component Test Code*Component Chart NameLOINC
2011242Duchenne/Becker MD (DMD) Reflex Specimen
2011243Duchenne/Becker MD (DMD) DelDup MLPA31208-2
2011244Duchenne/Becker MD (DMD) Reflex Interp
* 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