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GTR Home > Tests > Horizon 14

Overview

Test name

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Horizon 14

Purpose of the test

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This is a clinical test intended for Help: Screening

Condition

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How to order

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Not provided

Methodology

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Molecular Genetics
ESequence analysis of select exons
Next-Generation (NGS)/Massively parallel sequencing (MPS)
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
TTargeted variant analysis
Trinucleotide repeat by PCR or Southern Blot

Summary of what is tested

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Clinical utility

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Clinical validity

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Practice guidelines

  • 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

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.