GTR Test Accession:
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GTR000559401.1
Registered in GTR:
2018-01-30
View version history
GTR000559401.1,
registered in GTR:
2018-01-30
Last annual review date for the lab: 2023-12-22
LinkOut
At a Glance
Test purpose:
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Diagnosis;
Mutation Confirmation
Conditions (20):
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Telangiectasia, hereditary hemorrhagic, type 2;
Alveolar capillary dysplasia with pulmonary venous misalignment;
Capillary malformation-arteriovenous malformation 1
more...
Genes (19):
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Methods (2):
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Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS); ...
Target population: Help
Individuals whose clinical findings are consistent with the specific disorder.
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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- Cell culture
- Cord blood
- Fibroblasts
- Isolated DNA
- Peripheral (whole) blood
- Saliva
- White blood cell prep
- View specimen requirements
Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Physician
Test Order Code:
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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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Please use the equisition form and easy-to-use submission instructions available on the CTGT web site
Order URL
Order URL
Test service:
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Clinical Testing/Confirmation of Mutations Identified Previously
OrderCode: 5178
Confirmation of research findings
OrderCode: 5178
Confirmation of research findings
Test additional service:
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Custom Prenatal Testing
Comment: Optional Maternal Cell Contamination (MCC) testing is available for all prenatal tests
Custom mutation-specific/Carrier testing
Comment: Optional Maternal Cell Contamination (MCC) testing is available for all prenatal tests
Custom mutation-specific/Carrier testing
Test development:
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Test developed by laboratory but exempt from FDA oversight (eg. NYS CLEP approved, offered within a hospital or clinic)
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:
Lab contact for this test,
Test strategy
Conditions
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Total conditions: 20
Condition/Phenotype | Identifier |
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Test Targets
Genes
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Total genes: 19
Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
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Methodology
Total methods: 2
Method Category
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Test method
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Instrument *
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Targeted variant analysis
Bi-directional Sanger Sequence Analysis
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis;
Mutation Confirmation
Target population:
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Individuals whose clinical findings are consistent with the specific disorder.
Research:
Is research allowed on the sample after clinical testing is complete?
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CTGT does not perform research on samples after testing is complete.
CTGT does not perform research on samples after testing is complete.
Recommended fields not provided:
Clinical validity,
Clinical utility,
What is the protocol for interpreting a variation as a VUS?,
Sample negative report,
Sample positive report
Technical Information
Test Confirmation:
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Positive results are confirmed on a new DNA preparation using repeat sequence analysis.
Availability:
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Tests performed
Entire test performed in-house
Test performance comments
If applicable, Maternal Cell Contamination testing is performed by an outside CLIA-approved university laboratory.
Entire test performed in-house
Test performance comments
If applicable, Maternal Cell Contamination testing is performed by an outside CLIA-approved university laboratory.
Analytical Validity:
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Sensitivity and Specificity >99%
Proficiency testing (PT):
Is proficiency testing performed for this test?
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Yes
Method used for proficiency testing: Help
Intra-Laboratory
PT Provider: Help
Other
Description of PT method: Help
Internal proficiency testing is conducted biannually in compliance with all CAP regulations. Inter-laboratory proficiency testing is performed for some tests.
Yes
Method used for proficiency testing: Help
Intra-Laboratory
PT Provider: Help
Other
Description of PT method: Help
Internal proficiency testing is conducted biannually in compliance with all CAP regulations. Inter-laboratory proficiency testing is performed for some tests.
Recommended fields not provided:
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
Suggested reading:
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.