GTR Test Accession:
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GTR000575428.1
CAP
Registered in GTR:
2020-03-03
View version history
GTR000575428.1,
registered in GTR:
2020-03-03
Last annual review date for the lab: 2022-12-28
Past due
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At a Glance
Test purpose:
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Diagnosis;
Drug Response;
Predictive; ...
Conditions (6):
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Analytes (5):
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BAT-25;
BAT-26;
MONO-27;
NR-21;
NR-24
Genes (47):
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Methods (2):
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Molecular Genetics - Microsatellite instability testing (MSI): PCR; ...
Target population: Help
Gynecological neoplasms, and patients exploring certain immune checkpoint blockade therapies.
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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SMGNGSGYN_MSI
Specimen Source:
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- Paraffin block
Who can order: Help
- Health Care Provider
Test Order Code:
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SMGNGSGYN_MSI
View other test codes
View other test codes
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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SMGNGSGYN_MSI
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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No
Pre-test genetic counseling required:
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No
Post-test genetic counseling required:
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No
Recommended fields not provided:
Lab contact for this test,
Test strategy
Conditions
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Total conditions: 6
| Condition/Phenotype | Identifier |
|---|
Test Targets
Analytes
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Total analytes: 5
| Analyte | Associated Condition |
|---|
Genes
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Total genes: 47
| Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
|---|
Methodology
Total methods: 2
Method Category
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Test method
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Instrument *
Microsatellite instability testing (MSI)
PCR
Targeted variant analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis;
Drug Response;
Predictive;
Prognostic
Target population:
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Gynecological neoplasms, and patients exploring certain immune checkpoint blockade therapies.
Recommended fields not provided:
Clinical validity,
Clinical utility,
What is the protocol for interpreting a variation as a VUS?,
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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SmartGenomics GYN NGS: Analytic sensitivity >99% when variant is present at >5% VAF with minimum of 20% tumor cells. Analytic specificity of >99%. Precision and reproducibility of >98%. MSI:Analytic sensitivity is approximately 5%. Analytic specificity >98%.
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
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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Category:
FDA exercises enforcement discretion
Additional Information
Reviews:
Clinical resources:
Practice guidelines:
Consumer resources:
IMPORTANT NOTE:
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Patients and consumers
with specific questions about a genetic test should contact a health care provider or a genetics professional.