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Diagnostic génotypique direct de la dystrophie myotonique de Steinert (Gène … see more Diagnostic génotypique direct de la dystrophie myotonique de Steinert (Gène DM)  see less
Clinical Genetic Test
Help
offered by
Laboratoire de Diagnostic Moleculaire
View lab's test page
LinkOut
GTR Test Accession: Help GTR000264962.5
CAP
INHERITED DISEASECARDIOVASCULARMUSCULOSKELETAL ... View more
Last updated in GTR: 2020-05-27
View version history
Last annual review date for the lab: 2021-06-23 Past due LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation; Pre-symptomatic
Conditions (1): Help
Steinert myotonic dystrophy syndrome
Genes (1): Help
DMPK (19q13.32)
Methods (1): Help
Molecular Genetics - Targeted variant analysis: Trinucleotide repeat by PCR or Southern Blot
Target population: Help
Confirmation of clinical diagnosis, individuals with muscle weakness and / …
Clinical validity: Help
Not provided
Clinical utility: Help
Predictive risk information for patient and/or family members; Reproductive decision-making
Ordering Information
Offered by: Help
Laboratoire de Diagnostic Moleculaire
View lab's test page
Test short name: Help
STEIN
Specimen Source: Help
Who can order: Help
  • Licensed Physician
Lab contact: Help
Jacqueline Dionne, BSc, Staff
jacqueline.dionne@chudequebec.ca
1-418-525-4444 ext 52426
Yves Giguere, PhD, MD, Lab Director
yves.giguere@crchudequebec.ulaval.ca
1-418-525-4444 ext 53712
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
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
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: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument
Targeted variant analysis
Trinucleotide repeat by PCR or Southern Blot
BioRad C1000, homemade furniture for Southern Blot
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Pre-symptomatic
Clinical utility: Help
Predictive risk information for patient and/or family members
View citations (1)

Reproductive decision-making
View citations (1)

Target population: Help
Confirmation of clinical diagnosis, individuals with muscle weakness and / or abnormal EMG, myotonia, positive family history, prenatal diagnosis (mother or father with a confirmed diagnosis), newborn with hypotonia, fetuses with clubfeet ultrasound, cataracts,
Recommended fields not provided:
Clinical validity, What is the protocol for interpreting a variation as a VUS?, Are family members with defined clinical status recruited to assess significance of VUS without charge?, Will the lab re-contact the ordering physician if variant interpretation changes?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Test Comments: Help
Test available only for residents of Canada
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytical sensitivity: 99%
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
Category: FDA exercises enforcement discretion
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.