GTR Test Accession:
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GTR000613044.1
Registered in GTR:
2023-10-20
View version history
GTR000613044.1,
registered in GTR:
2023-10-20
Last annual review date for the lab: 2024-01-12
LinkOut
At a Glance
Test purpose:
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Diagnosis;
Pre-symptomatic;
Risk Assessment
Conditions (97):
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Solid tumor;
APC-related attenuated familial adenomatous polyposis;
AXIN2-related attenuated familial adenomatous polyposis
more...
Genes (77):
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Methods (1):
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Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
Patients with a personal or family history that places them …
Clinical validity:
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Clinical validity is dependent on individual patient clinical picture and …
Clinical utility:
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Not provided
Ordering Information
Offered by:
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Specimen Source:
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- Isolated DNA
- Peripheral (whole) blood
- View specimen requirements
Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Physician
- Nurse Practitioner
- Physician Assistant
Test Order Code:
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TP69
LOINC codes:
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CPT codes:
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Lab contact:
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Sarah Witherington, MS, Certified Genetic counselor, CGC, Genetic Counselor
switherington@bioreference.com
224-250-3416
switherington@bioreference.com
224-250-3416
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.
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.
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.
Test service:
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Genetic counseling
OrderCode: TQ06, TQ07
OrderCode: TQ06, TQ07
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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No
Post-test genetic counseling required:
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Decline to answer
Recommended fields not provided:
How to Order,
Test strategy
Conditions
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Total conditions: 97
| Condition/Phenotype | Identifier |
|---|
Test Targets
Genes
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Total genes: 77
| 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
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Illumina NovaSeq
Clinical Information
Test purpose:
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Diagnosis;
Pre-symptomatic;
Risk Assessment
Clinical validity:
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Clinical validity is dependent on individual patient clinical picture and family history of disease.
Target population:
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Patients with a personal or family history that places them at risk for a hereditary cancer syndrome or are looking for potential treatment options.
Variant Interpretation:
Will the lab re-contact the ordering physician if variant interpretation changes?
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Yes.
Yes.
Recommended fields not provided:
Clinical utility,
What is the protocol for interpreting a variation as a VUS?,
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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Limit of detection: 4% VAF for small variants. Analytical Sensitivity: 100% (for SNVs and Indels at 4% VAF and gene amplification)
Analytical Specificity: > 98.3% for Indels. >99.8% for SNVs
Proficiency testing (PT):
Is proficiency testing performed for this test?
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Yes
Method used for proficiency testing: Help
Internal and formal PT
Yes
Method used for proficiency testing: Help
Internal and formal PT
Recommended fields not provided:
Test Confirmation,
Assay limitations,
Description of internal test validation method,
Citations for Analytical validity,
PT Provider,
Description of PT method,
Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review:
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Not provided
NYS CLEP Approval:
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Number:
Status: Pending
Status: Pending
Additional Information
Reviews:
Clinical resources:
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.