GTR Test Accession:
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GTR000502960.5
CAP
Last updated in GTR:
2024-07-26
View version history
GTR000502960.5,
last updated:
2024-07-26
GTR000502960.4,
last updated:
2018-09-24
GTR000502960.3,
last updated:
2017-08-07
GTR000502960.2,
last updated:
2016-07-27
GTR000502960.1,
registered in GTR:
2014-05-02
Last annual review date for the lab: 2024-07-30
LinkOut
At a Glance
Test purpose:
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Diagnosis;
Mutation Confirmation;
Pre-symptomatic
Conditions (1):
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Steinert myotonic dystrophy syndrome
Genes (1):
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DMPK (19q13.32)
Methods (1):
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Molecular Genetics - Targeted variant analysis: Trinucleotide repeat by PCR or Southern Blot
Target population: Help
Individuals exhibiting symptoms consistent with Myotonic Dystrophy (DM1); the CTG …
Clinical validity:
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The CTG trinucleotide repeat is found in 99% of individuals …
Clinical utility:
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Establish or confirm diagnosis;
Predictive risk information for patient and/or family members;
Reproductive decision-making
Ordering Information
Offered by:
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Specimen Source:
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- Amniocytes
- Amniotic fluid
- Buccal swab
- Chorionic villi
- Isolated DNA
- Peripheral (whole) blood
- View specimen requirements
Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Physician
- Nurse Practitioner
- Physician Assistant
LOINC codes:
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Lab contact:
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Lynne Whetsell, BS, MB(ASCP), Staff
lhwhetsell@saintfrancis.com
918-502-3808
Tonya Jones, BS, CG(ASCP), MB(ASCP), Administrator
tsjones@saintfrancis.com
918-502-1730
lhwhetsell@saintfrancis.com
918-502-3808
Tonya Jones, BS, CG(ASCP), MB(ASCP), Administrator
tsjones@saintfrancis.com
918-502-1730
Contact Policy:
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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.
Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
How to Order:
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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 …
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 …
Order URL
Test service:
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Clinical Testing/Confirmation of Mutations Identified Previously
Test development:
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Test developed by laboratory (no manufacturer test name)
Informed consent required:
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Decline to answer
Pre-test genetic counseling required:
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Decline to answer
Post-test genetic counseling required:
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Decline to answer
Recommended fields not provided:
Test Order Code,
Test strategy
Conditions
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Total conditions: 1
Condition/Phenotype | Identifier |
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Test Targets
Genes
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Total genes: 1
Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
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Methodology
Total methods: 1
Method Category
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Test method
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Instrument
Targeted variant analysis
Trinucleotide repeat by PCR or Southern Blot
Applied Biosystems 3130 Capillary Sequencing System
Clinical Information
Test purpose:
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Diagnosis;
Mutation Confirmation;
Pre-symptomatic
Clinical validity:
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The CTG trinucleotide repeat is found in 99% of individuals with DM.
Clinical utility:
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Establish or confirm diagnosis
Predictive risk information for patient and/or family members
Reproductive decision-making
Predictive risk information for patient and/or family members
Reproductive decision-making
Target population:
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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?
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N/A
N/A
Will the lab re-contact the ordering physician if variant interpretation changes?
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Not provided.
Not provided.
Recommended fields not provided:
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:
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Confirmation is performed on a new blood specimen (if submitted) and a separate DNA preparation using the same methodology.
Test Confirmation:
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Confirmation is performed on a new blood specimen (if submitted) and a separate DNA preparation using the same methodology.
Availability:
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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.
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:
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Analytical sensitivity, specificity and accuracy greater than 99%; determined by in-house validations.
Proficiency testing (PT):
Is proficiency testing performed for this test?
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Yes
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
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
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N/A
Laboratory's policy on reporting novel variations Help
N/A
N/A
Laboratory's policy on reporting novel variations Help
N/A
Recommended fields not provided:
Assay limitations,
Description of internal test validation method,
Description of PT method,
Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review:
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Category:
FDA exercises enforcement discretion
Additional Information
Clinical resources:
Molecular resources:
Practice guidelines:
Consumer resources:
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.