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Duchenne and Becker muscular dystrophy (DMD gene)
Clinical Genetic Test
Help
offered by
Molecular Genetics and Cytogenetics, Clinical Laboratory Service
GTR Test Accession: Help GTR000568276.3
CAP
INHERITED DISEASEMUSCULOSKELETALNERVOUS SYSTEM ... View more
Last updated in GTR: 2020-08-10
View version history
Last annual review date for the lab: 2023-07-28 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation
Conditions (2): Help
Becker muscular dystrophy; Duchenne muscular dystrophy
Genes (1): Help
DMD (Xp21.2-21.1)
Methods (1): Help
Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA)
Target population: Help
Not provided
Clinical validity: Help
Deletions account for 60–65% of cases of BMD and DMD, …
Clinical utility: Help
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Molecular Genetics and Cytogenetics, Clinical Laboratory Service
View lab's website
Test short name: Help
Duchenne and Becker
Specimen Source: Help
Who can order: Help
  • Licensed Physician
Test Order Code: Help
1837
Lab contact: Help
Marcela Lagos, MD, Lab Director
mlagos@med.puc.cl
+56 223548515
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
How to Order, Test strategy, Test development
Conditions Help
Total conditions: 2
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation
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.
View citations (1)
  • Duchenne Muscular Dystrophy and Becker Muscular Dystrophy Confirmed by Multiplex Ligation-Dependent Probe Amplification: Genotype-Phenotype Correlation in a Large Cohort. Vengalil S, et al. J Clin Neurol. 2017;13(1):91-97. doi:10.3988/jcn.2017.13.1.91. PMID: 28079318.
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)
  • Gatta V, Scarciolla O, Gaspari AR, Palka C, De Angelis MV, Di Muzio A, Guanciali-Franchi P, Calabrese G, Uncini A, Stuppia L. Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA). Hum Genet. 2005;117(1):92-8. doi:10.1007/s00439-005-1270-7. Epub 2005 Apr 20. PMID: 15841391.

Variant Interpretation:
Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
Decline to answer.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Decline to answer.
Recommended fields not provided:
Target population, What is the protocol for interpreting a variation as a VUS?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
For validation, samples from patients with Duchenne (DMD) and Becker muscular dystrophy (BMD) with a known genotype and 2 CAP samples were analyzed (79 exons of the DMD gene). 100% concordance was obtained in the results.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in 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.