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GTR Home > Tests > Hemoglobin H disease, nondeletional, 613978; HBH (Hemoglobin H disease) (Prenatal) (MLPA)

Overview

Test order codeHelp: 6853

Test name

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Hemoglobin H disease, nondeletional, 613978; HBH (Hemoglobin H disease) (Prenatal) (MLPA)

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)

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 ACT, 2023
    ACMG ACT, FA + High Barts Hb (>20-25% Barts) or FAB3), Alpha (a) Thalassemia: Hb H Disease
  • ACMG Algorithm, 2023
    ACMG Algorithm, Hemoglobin FA + Barts: High Barts Alpha Thalassemia Screening Result (FAB3; FA + Barts > 20-25%), 2023
  • ACMG ACT, 2023
    American College of Medical Genetics Newborn Screening ACT sheet, FA + Barts present (unquantified), FAB, Alpha Thalassemia, 2023
  • ACMG Algorithm, 2023
    ACMG Algorithm, Hemoglobin FA + Barts: Unquantified Barts Alpha Thalassemia Screening Result (FAB), 2023
  • ACMG ACT, 2023
    ACMG ACT, FA + Low/Moderate Barts Hb, FAB2, FAB1 Alpha Thalassemia: Silent carrier and alpha thalassemia trait, 2023
  • ACMG Algorithm, 2023
    ACMG Algorithm, Hemoglobin FA + Barts: Low/Moderate Barts Alpha Thalassemia Screening Result (FAB2; FAB1), 2023
  • ACMG ACT, 2012
    American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, FA + Barts Hb, Alpha (a) Thalassemia, 2012
  • ACMG Algorithm, 2009
    American College of Medical Genetics and Genomics, Algorithm, Hb Screening (non-S), 2009

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