Myotonic Dystrophy - DMPK Gene
GTR Test Accession: Help GTR000502960.4
CAP
INHERITED DISEASECARDIOVASCULARMUSCULOSKELETAL ... View more
Last updated in GTR: 2018-09-24
Last annual review date for the lab: 2021-10-14 Past due LinkOut
At a Glance
Diagnosis; Mutation Confirmation; Pre-symptomatic
Steinert myotonic dystrophy syndrome
Genes (1): Help
DMPK (19q13.32)
Molecular Genetics - Targeted variant analysis: Trinucleotide repeat by PCR or Southern Blot
Individuals exhibiting symptoms consistent with Myotonic Dystrophy (DM1); the CTG …
The CTG trinucleotide repeat is found in 99% of individuals …
Establish or confirm diagnosis; Predictive risk information for patient and/or family members; Reproductive decision-making
Ordering Information
Offered by: Help
Center for Genetics at Saint Francis
View lab's website
View lab's test page
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
Lab contact: Help
Lynne Whetsell, BS, MB(ASCP), Administrator
lhwhetsell@saintfrancis.com
918-502-1730
Contact Policy: Help
Post-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
How to Order: Help
1. Choose the desired test from the Test Directory.
2. Obtain information on the required specimen for the specific test from the Test Information page.
3. Fill out the necessary test requisition form and any other required forms from the Forms page.
4. Provide the required Billing information or make …
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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:
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 3130 Capillary Sequencing System
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Pre-symptomatic
Clinical validity: Help
The CTG trinucleotide repeat is found in 99% of individuals with DM.
Clinical utility: Help
Target population: Help
Individuals exhibiting symptoms consistent with Myotonic Dystrophy (DM1); the CTG trinucleotide repeat is found in 99% of individuals with DM. Individuals at risk for Myotonic Dystrophy based on family history. Individuals with myotonia and neonates with hypotonia
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
N/A

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Not provided.
Recommended fields not provided:
Technical Information
Test Procedure: Help
Confirmation is performed on a new blood specimen (if submitted) and a separate DNA preparation using the same methodology.
Test Confirmation: Help
Confirmation is performed on a new blood specimen (if submitted) and a separate DNA preparation using the same methodology.
Availability: Help
Tests performed
Interpretation performed in-house
Report generated in-house
Specimen preparation performed in-house
Wet lab work performed both in-house and at an outside lab

Test performance comments
If Southern blot analysis is necessary, it is sent out to a laboratory that performs that method. The initial PCR of the trinucleotide region is performed in-house.
Analytical Validity: Help
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
N/A

Laboratory's policy on reporting novel variations Help
N/A
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information

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