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Beta-thalassemia
Clinical Genetic Test
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offered by
Molecular Genetics Diagnostic Laboratory
View lab's test page
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GTR Test Accession: Help GTR000336253.4
CAP
INHERITED DISEASEHEMATOLOGYENDOCRINOLOGY ... View more
Last updated in GTR: 2016-05-31
View version history
Last annual review date for the lab: 2024-04-29 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Screening
Conditions (9): Help
beta Thalassemia; Beta thalassemia intermedia; Beta-thalassemia major more...
Genes (1): Help
HBB (11p15.4)
Methods (1): Help
Molecular Genetics - Sequence analysis of the entire coding region: Bi-directional Sanger Sequence Analysis
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Molecular Genetics Diagnostic Laboratory
View lab's website
View lab's test page
Test short name: Help
HBB
Specimen Source: Help
  • Amniocytes
  • Amniotic fluid
  • Chorionic villi
  • Peripheral (whole) blood
Who can order: Help
  • Health Care Provider
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.
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
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, How to Order, Lab contact for this test, Test strategy
Conditions Help
Total conditions: 9
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
Applied biostystems 3130XL capillary sequencing instrument
Clinical Information
Test purpose: Help
Diagnosis; Screening
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
Test Platform:
None/not applicable
Test Comments: Help
Bidirectional sequencing analysis for all 3 exons, including intron 1, the immediately flanking regions of intron 2 and the 3' end of exon 3
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
specificiy and sensitivity 100%
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Not provided
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.