Clinical Genetic Test
offered by
GTR Test Accession:
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GTR000567650.1
CAP
Registered in GTR:
2019-06-03
View version history
GTR000567650.1,
registered in GTR:
2019-06-03
Last annual review date for the lab: 2024-08-09
LinkOut
At a Glance
Methods (1):
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Molecular Genetics - Targeted variant analysis: Trinucleotide repeat by PCR or Southern Blot
Target population: Help
Not provided
Clinical validity:
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Not provided
Clinical utility:
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Not provided
Ordering Information
Offered by:
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Test short name:
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MOL391
Specimen Source:
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- Amniocytes
- Buccal swab
- Cell culture
- Fibroblasts
- Fresh tissue
- Frozen tissue
- Isolated DNA
- Peripheral (whole) blood
Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Physician
- Physician Assistant
- Registered Nurse
CPT codes:
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Contact Policy:
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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:
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Identify the test you need with our test name or test code search, and print the test requisition form.
Request the appropriate sample collection kit from MNG, or use your own for sample collection.
Ship us the sample(s) overnight—free inbound and return FedEx Priority Overnight® shipping …
Request the appropriate sample collection kit from MNG, or use your own for sample collection.
Ship us the sample(s) overnight—free inbound and return FedEx Priority Overnight® shipping …
Order URL
Test service:
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Clinical Testing/Confirmation of Mutations Identified Previously
Custom Sequence Analysis
Result interpretation
Custom Sequence Analysis
Result interpretation
Test additional service:
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Custom mutation-specific/Carrier testing
Informed consent required:
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Based on applicable state law
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,
Lab contact for this test,
Test strategy,
Test development
Conditions
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Total conditions: 12
| Condition/Phenotype | Identifier |
|---|
Test Targets
Genes
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Total genes: 12
| Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
|---|
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 3730 capillary sequencing instrument
Clinical Information
Test purpose:
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Diagnosis
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS?
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Variants are identified and evaluated using a proprietary collection of bioinformatic tools and comprehensively interpreted.
Variants are identified and evaluated using a proprietary collection of bioinformatic tools and comprehensively interpreted.
Will the lab re-contact the ordering physician if variant interpretation changes?
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Not provided.
Not provided.
Recommended fields not provided:
Clinical validity,
Clinical utility,
Target population,
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 Platform:
None/not applicable
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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100 percent sensitivity and specificity based on CAP annual proficiency testing
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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A proprietary collection of bioinformatics tools.
Laboratory's policy on reporting novel variations Help
Following extensive investigation, variants that cannot be located in published literature or databases are reported as novel variations.
A proprietary collection of bioinformatics tools.
Laboratory's policy on reporting novel variations Help
Following extensive investigation, variants that cannot be located in published literature or databases are reported as novel variations.
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:
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Not provided
Additional Information
Clinical resources:
Molecular 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.