Beta-Thalassemia: HBB (Known Mutation)
Clinical Genetic Test
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offered by
GTR Test Accession: Help GTR000530703.2
INHERITED DISEASEENDOCRINOLOGYHEMATOLOGY ... View more
Last updated in GTR: 2020-08-10
Last annual review date for the lab: 2023-07-26 LinkOut
At a Glance
Diagnosis; Risk Assessment
beta Thalassemia
Genes (1): Help
HBB (11p15.4)
Molecular Genetics - Sequence analysis of select exons: Bi-directional Sanger Sequence Analysis
Individuals with documented HBB mutation in a blood-relative
Not provided
Not provided
Ordering Information
Offered by: Help
Molecular Diagnostic Laboratory
View lab's website
Specimen Source: Help
Test Order Code: Help
252827
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: 1
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 select exons
Bi-directional Sanger Sequence Analysis
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Risk Assessment
Target population: Help
Individuals with documented HBB mutation in a blood-relative
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
The sensitivity of DNA sequencing is over 99% for the detection of nucleotide base changes, small deletions and insertions in the regions analyzed.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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