Dystrophinopathies
GTR Test Accession: Help GTR000508963.5
CAP
NERVOUS SYSTEMINHERITED DISEASEMUSCULOSKELETAL ... View more
Last updated in GTR: 2021-10-02
Last annual review date for the lab: 2023-09-06 LinkOut
At a Glance
Diagnosis; Mutation Confirmation; Pre-symptomatic
Qualitative or quantitative defects of dystrophin; Becker muscular dystrophy; Dilated cardiomyopathy 3B; ...
Genes (1): Help
DMD (Xp21.2-21.1)
Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA)
Not provided
Not provided
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Ordering Information
Offered by: Help
Molecular Genetics Laboratory
View lab's website
View lab's test page
Test short name: Help
DMD
Specimen Source: Help
  • Amniocytes
  • Amniotic fluid
  • Bone marrow
  • Chorionic villi
  • Cord blood
  • Fetal blood
  • Fresh tissue
  • Frozen tissue
  • Peripheral (whole) blood
  • Product of conception (POC)
  • View specimen requirements
Lab contact: Help
Molecular Genetics Laboratory, Laboratory Contact
moleculargenetics@cw.bc.ca
604-875-2852
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.
How to Order: Help
Currently, samples are only accepted from residents of Canada. Please use the General Requisition form on our website.
Order URL
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:
Conditions Help
Total conditions: 4
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; Pre-symptomatic
Recommended fields not provided:
Technical Information
Test Comments: Help
Requests for presymptomatic testing are only accepted following genetic counselling by a recognized genetic service.
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Approximately 70 - 75% of DMD patients and 85 - 90% of BMD patients will have a deletion or duplication detectable by this assay.
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:
Regulatory Approval
FDA Review: Help
Category: Not Applicable
Additional Information

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