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GTR Home > Tests > Beta-thalassemia

Overview

Test name

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Beta-thalassemia (HBB)

Purpose of the test

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This is a clinical test intended for Help: Diagnosis, Screening

Condition

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How to order

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Not provided

Specimen source

Amniocytes
Amniotic fluid
Chorionic villi
Peripheral (whole) blood

Methodology

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Molecular Genetics
CSequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
  • Applied biostystems 3130XL capillary sequencing instrument
  • None/not applicable

Summary of what is tested

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Clinical utility

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Not provided

Clinical validity

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Not provided

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Custom Prenatal Testing
  • Custom mutation-specific/Carrier testing

Practice guidelines

  • ACMG Algorithm, 2023
    ACMG Algorithm, Hemoglobin F Only or F with Decreased A: Transfusion Dependent or Non Transfusion Dependent beta-Thalassemia; Hb beta 0 Thalassemia; Hb beta+/beta+ Thalassemia; Hb beta0/beta+ Thalassemia Screening Result, 2023
  • ACMG ACT, 2023
    American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Hemoglobin F-Only; Hemoglobin F With Decreased A, 2023
  • ACMG ACT, 2023
    American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, FEA, Hemoglobin E/Beta Plus Thalassemia, 2023
  • ACMG Algorithm, 2009
    American College of Medical Genetics and Genomics, Algorithm, Hb Screening (non-S), 2009

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the 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.