GTR Test Accession:
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GTR000570544.1
CAP
Registered in GTR:
2020-01-31
View version history
GTR000570544.1,
registered in GTR:
2020-01-31
Last annual review date for the lab: 2024-07-15
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At a Glance
Test purpose:
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Screening
Conditions (4):
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Genes (4):
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G6PD (Xq28);
HBA1 (16p13.3);
HBA2 (16p13.3);
HBB (11p15.4)
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
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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Who can order: Help
- Health Care Provider
Test Order Code:
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U
Test development:
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Test developed by laboratory (no manufacturer test name)
Informed consent required:
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Decline to answer
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,
Specimen source,
Lab contact for this test,
Contact policy,
Test strategy
Conditions
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Total conditions: 4
Condition/Phenotype | Identifier |
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Test Targets
Genes
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Total genes: 4
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
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose:
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Screening
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
Interpretation performed both in-house and at an outside lab
Report generated in-house
Specimen preparation performed in-house
Wet lab work performed both in-house and at an outside lab
Test performance comments
Hemoglobinopathy evaluation is performed and developed by LabCorp (LabCorp Dublin 6370 Wilcox Road, Dublin, OH) and includes CBC, HPLC, and or hemoglobin electrophoresis as necessary.
Interpretation performed both in-house and at an outside lab
Report generated in-house
Specimen preparation performed in-house
Wet lab work performed both in-house and at an outside lab
Test performance comments
Hemoglobinopathy evaluation is performed and developed by LabCorp (LabCorp Dublin 6370 Wilcox Road, Dublin, OH) and includes CBC, HPLC, and or hemoglobin electrophoresis as necessary.
Analytical Validity:
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Designed coverage, which includes coding regions, canonical splice sites, and known intronic pathogenic variants is achieved with ≥20 read depth in the HBA1, HBA2, G6PD and HBB genes. Untranslated regions are included for HBA2 and HBB. This test has >99.9% sensitivity to substitution variants, and >99% sensitivity to small indels …
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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
Clinical resources:
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Patients and consumers
with specific questions about a genetic test should contact a health care provider or a genetics professional.