Test Catalog

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Test ID: DBMD    
Duchenne/Becker Muscular Dystrophy DMD Gene, Large Deletion and Duplication Analysis

Useful For Suggests clinical disorders or settings where the test may be helpful

Confirmation of a clinical diagnosis of Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD)

 

Distinguishing DMD from BMD in some cases, based on the type of deletion detected (allows for better prediction of prognosis)

 

Determination of carrier status in family member at risk for DMD or BMD

 

Prenatal diagnosis of DMD or BMD in at-risk pregnancies

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

Deletions and duplications only.

 

If testing is being performed due to family history, documentation regarding the familial mutation before testing an asymptomatic individual or proceeding with carrier testing is preferred.

Reflex Tests Lists tests that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial tests.

Test IDReporting NameAvailable SeparatelyAlways Performed
CULFBFibroblast Culture for Genetic TestYesNo
CULAFAmniotic Fluid Culture/Genetic TestYesNo
MATCCMaternal Cell Contamination, BYesNo

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

For prenatal specimens only: If amniotic fluid (nonconfluent cultured cells) is received, amniotic fluid culture/genetic test will be added and charged separately. If chorionic villus specimen (nonconfluent cultured cells) is received, fibroblast culture for genetic test will be added and charged separately. For any prenatal specimen that is received, maternal cell contamination studies will be added.

Special Instructions Library of PDFs including pertinent information and forms related to the test

Method Name A short description of the method used to perform the test

Dosage Analysis by Polymerase Chain Reaction (PCR)/Multiplex Ligation-Dependent Probe Amplification (MLPA)

NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

DMD/BMD Deletion/Duplication

Aliases Lists additional common names for a test, as an aid in searching

Duchenne Muscular Dystrophy
Becker Muscular Dystrophy
Dystrophinopathy