Beta Globin (HBB) Seq
GTR Test Accession: Help GTR000501909.6
INHERITED DISEASEENDOCRINOLOGYHEMATOLOGY ... View more
Last updated in GTR: 2024-02-22
Last annual review date for the lab: 2023-09-29 LinkOut
At a Glance
Diagnosis
beta Thalassemia
Genes (1): Help
HBB (11p15.4)
Molecular Genetics - Sequence analysis of select exons: Bi-directional Sanger Sequence Analysis
Not provided
Not provided
Not provided
Ordering Information
Offered by: Help
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics
View lab's website
View lab's test page
Specimen Source: Help
Test Order Code: Help
THALS
CPT codes: Help
**AMA CPT codes notice
How to Order: Help
Each specimen must be accompanied by a physician's test request. Informed consent is desirable. Proper billing information should also be provided on the test requisition form.
Order URL
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: 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
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytical sensitivity and specificity = ~99%
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information

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