GTR Test Accession:
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GTR000525832.4
NYS CLEP
Last updated in GTR:
2022-10-25
View version history
GTR000525832.4,
last updated:
2022-10-25
GTR000525832.3,
last updated:
2020-01-10
GTR000525832.2,
last updated:
2016-03-03
GTR000525832.1,
registered in GTR:
2015-07-27
Last annual review date for the lab: 2024-11-15
LinkOut
At a Glance
Test purpose:
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Mutation Confirmation
Conditions (1):
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Beta-thalassemia-X-linked thrombocytopenia syndrome
Genes (1):
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BCAM (19q13.32)
Methods (1):
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Molecular Genetics - Sequence analysis of the entire coding region: PCR with allele specific hybridization
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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- Amniocytes
- Amniotic fluid
- Chorionic villi
- Peripheral (whole) blood
- 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 service:
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Genetic counseling
Identity Testing
Identity Testing
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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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 *
Sequence analysis of the entire coding region
PCR with allele specific hybridization
* Instrument: Not provided
Clinical Information
Test purpose:
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Mutation Confirmation
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
Test Comments:
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The Dombrock (DO) and Lutheran (LU) blood group systems are each characterized by two main antigenic variants: Doa and Dob are encoded by the DO1 and DO2 alleles and Lua and Lub are encoded by the LU1 and LU2 alleles. The Kell blood group (KEL) is comprised of several antigenic …
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Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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Assay sensitivity and specificity is >99%.
Assay limitations:
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Rare mutations resulting in loss of expression of the Lua and Lub antigens will not be detected by this assay.
Proficiency testing (PT):
Is proficiency testing performed for this test?
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No
No
Recommended fields not provided:
Test Confirmation,
Citations to support 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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Category:
FDA exercises enforcement discretion
NYS CLEP Approval:
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Number:
10056
Status: Approved
Status: Approved
Additional Information
Clinical resources:
Molecular 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.