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Dystrophia myotonica protein kinase (DMPK) gene CTG triplet repeat test
Clinical Genetic Test
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offered by
Neurogenetics Department
View lab's test page
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GTR Test Accession: Help GTR000078631.3
INHERITED DISEASECARDIOVASCULARMUSCULOSKELETAL ... View more
Last updated in GTR: 2015-11-26
View version history
Last annual review date for the lab: 2021-01-29 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
Myotonic Dystrophy patients
Clinical validity: Help
Not provided
Clinical utility: Help
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Neurogenetics Department
View lab's website
View lab's test page
Test short name: Help
DM1
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
Test Order Code: Help
20-9
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
Completion of the laboratory referral letter by the referring physician/scientist. Provision of a signed informed consent form. Both forms are available on the laboratory website.
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Test additional service: Help
Custom Prenatal Testing
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Yes
Pre-test genetic counseling required: Help
Yes
Post-test genetic counseling required: Help
Yes
Recommended fields not provided:
Lab contact for this test, 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
Applied Biosystems 3130xl genetic analyser
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Pre-symptomatic; Risk Assessment
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)

Target population: Help
Myotonic Dystrophy patients
View citations (1)
  • Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member. Brook JD, et al. Cell. 1992;68(4):799-808. doi:10.1016/0092-8674(92)90154-5. PMID: 1310900.
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 Procedure: Help
[1] FAM labelled PCR and Applied Biosystems 3031xl automated fragment analysis of the CAG repeat expansion in the 3' untranslated region of the dystrophia myotonica protein kinase gene (DMPK) on chromosome 19. [2] TP-PCR analysis of the above trinucleotide repeat is performed using the Applied Biosystems 3130xl Genetic Analyser and … View more
View citations (1)
  • Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member. Brook JD, et al. Cell. 1992;68(4):799-808. doi:10.1016/0092-8674(92)90154-5. PMID: 1310900.
Test Confirmation: Help
different method or new sample
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
99% precise
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
European Molecular Genetics Quality Network, EMQN
Recommended fields not provided:
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.