Muscular Dystrophy: Limb Girdle - autosomal dominant

GTR Test IDHelpEach Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. The format is GTR00000001.1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version. When a laboratory updates a registered test, a new version number is assigned.: GTR000514787.2
Last updated: 2015-12-20
Test version history
- 514787.2, last updated: 2015-12-20
- 514787.1, last updated: 2015-04-13

Clinical testHelpIn the U.S., clinical tests must be performed under CLIA certification. When a lab uses the same methods for a test in both clinical and research settings, the test appears as two separate GTR records. for Duchenne muscular dystrophy
Offered by MGZ Medical Genetics Center

Interpretation

Not provided

Variants Of Unknown Significance (VUS) Policy And Interpretation

What is the protocol for interpreting a variation as a VUS? HelpDescription of how the laboratory handles Variants of Unknown Significance. This may be a general statement for the laboratory and not specific to this test.: Not provided
What is the laboratory's policy on reporting novel variations? HelpDescription of how the lab reports novel variations, it may include who gets contacted and how (ex. person ordering the test will be contacted via telephone as soon as VUS is identified).: Decline to answer
Are family members with defined clinical status recruited to assess significance of VUS without charge?HelpDoes the laboratory offer testing for a variant of unknown significance to family members, free of charge? (Is test offered to affected individuals and/or presumed obligate carriers to help determine clinical significance of a VUS?): Not provided, Yes

Research

Is research allowed on the sample after clinical testing is complete?HelpAfter clinical testing is complete, does the laboratory perform any research testing using the submitted specimen? (Quality control is not considered as research for this question.): Not provided

Reviews

Clinical resources

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
Orphanet, 2013
Orphanet, Duchenne muscular dystrophy, 2013
ACMG ACT, 2012
American College of Medical Genetics & Genomics Genetic Testing ACT Sheet, Duchenne and Becker Muscular Dystrophy, 2012

Molecular resources

Consumer resources

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