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CMD panel
Clinical Genetic Test
Help
offered by
Genome Diagnostics Laboratory
GTR Test Accession: Help GTR000500215.1
CAP
INHERITED DISEASEMUSCULOSKELETALNERVOUS SYSTEM ... View more
Last updated in GTR: 2012-09-28
View version history
Last annual review date for the lab: 2022-10-27 Past due LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (1): Help
Congenital muscular dystrophy
Genes (5): Help
FKRP (19q13.32), FKTN (9q31.2), POMGNT1 (1p34.1), POMT1 (9q34.13), POMT2 (14q24.3)
Methods (1): Help
Molecular Genetics - Sequence analysis of the entire coding region: Bi-directional Sanger Sequence Analysis
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Genome Diagnostics Laboratory
View lab's website
Specimen Source: Help
Who can order: Help
  • Health Care Provider
Lab contact: Help
Leslie Steele, MSc, Co-ordinator
leslie.steele@sickkids.ca
416-813-7200 ext 1
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
Requests are made from the referring health care provider through completion of the Molecular Genetics test requisition
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Test additional service: Help
Custom Prenatal Testing
Custom mutation-specific/Carrier testing
Test development: Help
Test developed by laboratory (no manufacturer test name)
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:
Test Order Code, Test strategy
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 5
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
Novel variations are evaluated using a variety of algorithms including splice site analysis, sequence conservation within species and isoforms and functional estimation (i.e. SIFT, Polyphen, AlignGVGD & Mutation Taster). If the variation cannot be placed into a pathogenic or non-pathogenic state, further studies including evaluation of family members and/or assessing … View more

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
Yes.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
No. They must contact us and want further information if they act on behalf of the patient
Recommended fields not provided:
Clinical validity, Clinical utility, Target population, 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
PCR-based sequencing detects 99% of the reported mutations in the POMGnT1, POMT1, POMT2, FKRP and FCMD genes. The sensitivity of DNA sequencing is over 99% for the detection of nucleotide base changes, small deletions, insertions and indels in the region analyzed.
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
VUS:
Software used to interpret novel variations Help
SIFT, POLYPHEN, Mutation Taster, Splicing Programs

Laboratory's policy on reporting novel variations Help
They are reported as such
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
Category: Not Applicable
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.