GTR Test Accession:
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GTR000527734.1
Registered in GTR:
2015-08-14
View version history
GTR000527734.1,
registered in GTR:
2015-08-14
Last annual review date for the lab: 2024-06-07
LinkOut
At a Glance
Test purpose:
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Diagnosis;
Pre-symptomatic;
Risk Assessment
Conditions (46):
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Genes (29):
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Methods (1):
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Molecular Genetics - Targeted variant analysis: KASP genotyping
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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Specimen Source:
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- Isolated DNA
- EDTA blood
- Saliva
Who can order: Help
- Genetic Counselor
- Licensed Physician
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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Please check the website for test ordering
Order URL
Order URL
Test service:
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Clinical Testing/Confirmation of Mutations Identified Previously
Confirmation of research findings
Custom Sequence Analysis
Genetic counseling
Result interpretation
Confirmation of research findings
Custom Sequence Analysis
Genetic counseling
Result interpretation
Test development:
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Test developed by laboratory (no manufacturer test name)
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
Conditions
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Total conditions: 46
Condition/Phenotype | Identifier |
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Test Targets
Genes
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Total genes: 29
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
KASP genotyping
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis;
Pre-symptomatic;
Risk Assessment
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS?
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According to ACMG-Guidelines
According to ACMG-Guidelines
Will the lab re-contact the ordering physician if variant interpretation changes?
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Yes.
Yes.
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?,
Is research allowed on the sample after clinical testing is complete?,
Sample negative report,
Sample positive report
Technical Information
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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The sensitivity for amplification approaches about 100% for mutation detection, but errors can be made because of polymorphisms causing allele dropout.
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
Other
Description of PT method: Help
KASP phenotyping
Yes
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
Other
Description of PT method: Help
KASP phenotyping
VUS:
Software used to interpret novel variations
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Charite Muatation Taster, PolyPhen-2, SIFT, Phast, BDGP, Align GVDG, Human Splicing Finder, etc.
Laboratory's policy on reporting novel variations Help
Detailed report
Charite Muatation Taster, PolyPhen-2, SIFT, Phast, BDGP, Align GVDG, Human Splicing Finder, etc.
Laboratory's policy on reporting novel variations Help
Detailed report
Recommended fields not provided:
Test Confirmation,
Assay limitations,
Description of internal test validation method,
Citations for Analytical validity,
Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review:
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Category:
Not Applicable
Additional Information
Reviews:
Clinical resources:
Molecular resources:
Consumer resources:
IMPORTANT NOTE:
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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.