U.S. flag

An official website of the United States government

GTR Home > Tests > Duchenne and Becker muscular dystrophy (DMD gene)

Overview

Test order codeHelp: 1837

Test name

Help

Duchenne and Becker muscular dystrophy (DMD gene) (Duchenne and Becker)

Purpose of the test

Help

This is a clinical test intended for Help: Diagnosis, Mutation Confirmation

Condition

Help

Loading data ......

Click Indication tab for more information.

How to order

Help

Not provided

Specimen source

Amniotic fluid
Bone marrow
Buccal swab
Cell culture
Cord blood
Fetal blood
Fibroblasts
Isolated DNA
Peripheral (whole) blood
Saliva

Methodology

Help
Molecular Genetics
DDeletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)

Summary of what is tested

Loading data ......

Click Methodology tab for more information.

Clinical utility

Help

Establish or confirm diagnosis

Citations
  • Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA). - PubMed ID: 15841391

Clinical validity

Help

Deletions account for 60–65% of cases of BMD and DMD, while duplications cause another 10–15% and the remainder may be due to point mutations which are not detected with this methodology.

Citations
  • Duchenne Muscular Dystrophy and Becker Muscular Dystrophy Confirmed by Multiplex Ligation-Dependent Probe Amplification: Genotype-Phenotype Correlation in a Large Cohort. - PubMed ID: 28079318

Test services

Help
  • Clinical Testing/Confirmation of Mutations Identified Previously

Practice guidelines

  • ACMG Algorithm, 2022
    American College of Medical Genetics and Genomics, Algorithm, ELEVATED CREATINEKINASE(CK)-MM , Genetic Neuromuscular Disorders, 2022
  • ACMG ACT, 2020
    American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, No Pathogenic Variant in Dystrophin (DMD) Gene after elevated creatine kinase muscle isoform (CK-MM), Genetic Neuromuscular Disease, 2020
  • ACMG ACT, 2020
    American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated creatine kinase muscle isoform (CKMM), Genetic Neuromuscular Disease, 2020
  • ACMG ACT, 2019
    American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Pathogenic Variant in Dystrophin (DMD Gene) and elevated creatine kinase muscle isoform (CK-MM), Duchenne and Becker Muscular Dystrophy, 2019
  • ACMG ACT, 2012
    American College of Medical Genetics & Genomics Genetic Testing ACT Sheet, Duchenne and Becker Muscular Dystrophy, 2012

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.