Duchenne/Becker Muscular Dystrophy (DMD) Deletion/Duplication with Reflex to Sequencing
Most comprehensive test for confirming carrier status or diagnosis of Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD).
Multiplex Ligation-dependent Probe Amplification/Massively Parallel Sequencing
Within 2 weeks, if reflexed add 2-4 weeks
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).
Transport 3 mL whole blood. (Min: 2 mL)
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
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.
Laboratory Developed Test (LDT)
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.
81161; if reflexed, add 81408
|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|