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Alpha globin gene sequencing
Clinical Genetic Test
Help
offered by
Hemoglobinopathy Reference Laboratory
GTR Test Accession: Help GTR000560993.1
HEMATOLOGYINHERITED DISEASE
Last updated in GTR: 2018-06-29
View version history
Last annual review date for the lab: 2022-07-27 Past due LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation; Screening
Conditions (4): Help
alpha Thalassemia; Hemoglobin H disease; Hemoglobin H disease, nondeletional; ...
Genes (2): Help
HBA1 (16p13.3), HBA2 (16p13.3)
Methods (1): Help
Molecular Genetics - Sequence analysis of the entire coding region: Bi-directional Sanger Sequence Analysis
Target population: Help
This assay will identify alpha globin gene mutations (hemoglobin variants).
Clinical validity: Help
Not provided
Clinical utility: Help
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
Order URL
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:
Test Order Code, Lab contact for this test, Contact policy, Test strategy
Conditions Help
Total conditions: 4
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 2
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; Screening
Target population: Help
This assay will identify alpha globin gene mutations (hemoglobin variants).
Recommended fields not provided:
Clinical validity, Clinical utility, 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: 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:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information

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