Hematological Panel
Clinical Genetic Test
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offered by
GTR Test Accession: Help GTR000570544.1
CAP
INHERITED DISEASEHEMATOLOGYENDOCRINOLOGY ... View more
Registered in GTR: 2020-01-31
Last annual review date for the lab: 2024-07-15 LinkOut
At a Glance
Screening
alpha Thalassemia; Anemia, nonspherocytic hemolytic, due to G6PD deficiency; Hb SS disease more...
Genes (4): Help
G6PD (Xq28); HBA1 (16p13.3); HBA2 (16p13.3); HBB (11p15.4)
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Not provided
Not provided
Not provided
Ordering Information
Offered by: Help
Who can order: Help
  • Health Care Provider
Test Order Code: Help
U
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Conditions Help
Total conditions: 4
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 4
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Screening
Recommended fields not provided:
Technical Information
Availability: Help
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.
Analytical Validity: Help
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 … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
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:
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information

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