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GTR Home > Tests > Beta-Thalassemia

Overview

Test name

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Beta-Thalassemia

Purpose of the test

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This is a clinical test intended for Help: Diagnosis

Condition

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How to order

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Not provided

Methodology

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Molecular Genetics
DDeletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
CSequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis

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

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.