Clinical Genetic Test
offered by
GTR Test Accession:
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GTR000596311.4
NYS CLEP
Last updated in GTR:
2024-08-08
View version history
GTR000596311.4,
last updated:
2024-08-08
GTR000596311.3,
last updated:
2024-07-11
GTR000596311.2,
last updated:
2023-07-31
GTR000596311.1,
registered in GTR:
2023-07-17
Last annual review date for the lab: 2024-07-12
LinkOut
At a Glance
Test purpose:
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Mutation Confirmation;
Risk Assessment;
Screening
Conditions (1):
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Fetal and neonatal alloimmune thrombocytopenia
Genes (5):
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CD109 (6q13);
GP1BA (17p13.2);
ITGA2 (5q11.2);
ITGA2B (17q21.31);
ITGB3 (17q21.32)
Methods (1):
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Molecular Genetics - Sequence analysis of select exons: PCR
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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- Peripheral (whole) blood
Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Physician
- Nurse Practitioner
- Physician Assistant
Test Order Code:
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3000193
View other test codes
View other test codes
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.
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:
How to Order,
Lab contact for this test,
Test strategy,
Test development
Conditions
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Total conditions: 1
| Condition/Phenotype | Identifier |
|---|
Test Targets
Genes
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Total genes: 5
| 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 select exons
PCR
* Instrument: Not provided
Clinical Information
Test purpose:
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Mutation Confirmation;
Risk Assessment;
Screening
Variant Interpretation:
Are family members with defined clinical status recruited to assess significance of VUS without charge?
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Yes.
Yes.
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,
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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Analytic Sensitivity and Specificity: 99 percent.
Proficiency testing (PT):
Is proficiency testing performed for this test?
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Yes
Method used for proficiency testing: Help
Intra-Laboratory
Yes
Method used for proficiency testing: Help
Intra-Laboratory
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:
9712
Status: Approved
Status: Approved
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.