GTR Test Accession:
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GTR000559551.3
NYS CLEP
CAP
Last updated in GTR:
2022-10-25
View version history
GTR000559551.3,
last updated:
2022-10-25
GTR000559551.2,
last updated:
2022-06-09
GTR000559551.1,
registered in GTR:
2019-01-16
Last annual review date for the lab: 2023-06-08
Past due
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At a Glance
Test purpose:
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Therapeutic management
Conditions (1):
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Hb SS disease
Genes (1):
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RHD (1p36.11)
Methods (1):
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Molecular Genetics - Targeted variant analysis: Allele-specific primer extension (ASPE)
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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- Bone marrow
- Cord blood
- Fetal blood
- Isolated DNA
- Peripheral (whole) blood
- White blood cell prep
- View specimen requirements
Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Physician
- Nurse Practitioner
Test Order Code:
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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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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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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:
Lab contact for this test,
Test strategy
Conditions
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Total conditions: 1
Condition/Phenotype | Identifier |
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Test Targets
Genes
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Total genes: 1
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
Allele-specific primer extension (ASPE)
* Instrument: Not provided
Clinical Information
Test purpose:
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Therapeutic management
Recommended fields not provided:
Clinical validity,
Clinical utility,
Target population,
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?,
Will the lab re-contact the ordering physician if variant interpretation changes?,
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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Analytical sensitivity is >99%. Rare polymorphisms within primer regions may interfere with detection of gene variants. Clinical sensitivity is >99% for all known mutations.
Assay limitations:
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New variant alleles or hybrid alleles that possess polymorphisms within the region targeted by the oligonucleotide primers may not be identified with this assay. The presence of nonfunctional alleles
can obscure the presence of a partial D allele.
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,
Citations to support 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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Not provided
NYS CLEP Approval:
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Number:
71499
Status: Approved
Status: Approved
Additional Information
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.