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HBA1/HBA2 and HBB Mutation Analysis
Clinical Genetic Test
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offered by
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory
View lab's test page
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GTR Test Accession: Help GTR000500397.4
HEMATOLOGYINHERITED DISEASEENDOCRINOLOGY ... View more
Last updated in GTR: 2016-09-20
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Last annual review date for the lab: 2024-07-01 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (6): Help
Hemoglobin H disease; Beta thalassemia intermedia; Beta-thalassemia major more...
Genes (3): Help
HBA1 (16p13.3); HBA2 (16p13.3); HBB (11p15.4)
Methods (2): Help
Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA); ...
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory
View lab's website
View lab's test page
Lab contact: Help
Lab Administration, Administrator
LabGeneticCounselors@cchmc.org
513-636-4474
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order: Help
Complete the appropriate test requisiton and have it signed by the referring physician.
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Test additional service: Help
Custom Prenatal Testing
Custom mutation-specific/Carrier testing
Test development: Help
Test developed by laboratory but exempt from FDA oversight (eg. NYS CLEP approved, offered within a hospital or clinic)
Informed consent required: Help
Decline to answer
Test strategy: Help
The following tests can be ordered as a comprehensive panel or seperately: HBA1/2 deletion/duplication analysis, HBA1/2 full gene sequencing, HBB deletion/duplication analysis, HBB full gene sequencing
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, Specimen source
Conditions Help
Total conditions: 6
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 3
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 2
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Recommended fields not provided:
Clinical validity, Clinical utility, Target population, 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
The sensitivity of deletion analysis by MLPA is over 90% for large deletions while the sensitivity of DNA sequencing is over 99% for the detection of nucleotide base changes, small deletions and insertions in the regions analyzed.
Assay limitations: Help
Large exonic deletions, large insertions and genetic recombination events may not be identified by sequencing. Rare primer site variants may lead to erroneous results with either methodology. Parental studies are sometimes necessary to determine the phase of identified sequence variants and their clinical significance.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Inter-Laboratory
Recommended fields not provided:
Test Confirmation, Citations to support 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

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.