GTR Home > Tests > Duchenne and Becker muscular dystrophy

Overview

Test order codeHelp: 1837

Test name

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Duchenne and Becker muscular dystrophy (Duchenne and Becker)

Purpose of the test

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

Condition

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How to order

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Not provided

Specimen source

Amniocytes
Amniotic fluid
Bone marrow
Buccal swab
Cell culture
Chorionic villi
Cord blood
Cystic hygroma fluid
Dried blood spot (DBS) card
Fetal blood
Fibroblasts
Fresh tissue
Frozen tissue
Isolated DNA
Peripheral (whole) blood
Plasma
Product of conception (POC)
Saliva
Serum
Skin
Sputum
Urine
White blood cell prep

Methodology

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

Summary of what is tested

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Clinical utility

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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

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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

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  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Identity Testing

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

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