Beta globin gene sequencing
Clinical Genetic Test
Help
offered by
GTR Test Accession: Help GTR000560994.1
HEMATOLOGYINHERITED DISEASEENDOCRINOLOGY ... View more
Last updated in GTR: 2018-06-29
Last annual review date for the lab: 2022-07-27 Past due LinkOut
At a Glance
Diagnosis; Mutation Confirmation
Hemoglobinopathy; beta Thalassemia
Genes (1): Help
HBB (11p15.4)
Molecular Genetics - Sequence analysis of the entire coding region: Bi-directional Sanger Sequence Analysis
Beta globin gene (HBB) sequencing can be used to identify …
Not provided
Not provided
Ordering Information
Offered by: Help
Hemoglobinopathy Reference Laboratory
View lab's website
Specimen Source: Help
Who can order: Help
  • Health Care Provider
How to Order: Help
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Result interpretation
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: 2
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
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
Bi-directional Sanger Sequence Analysis
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation
Target population: Help
Beta globin gene (HBB) sequencing can be used to identify hemoglobin variants and beta thalassemia mutations.
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
It is 100%
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Intra-Laboratory
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information

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