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GTR Home > Tests > GeneSeq PLUS, GALT

Overview

Test name

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GeneSeq PLUS, GALT

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
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)

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, 2021
    American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Absent/Reduced Galactose-1-Phosphate Uridyltransferase (GALT), Classic Galactosemia, 2021
  • ACMG Algorithm, 2021
    American College of Medical Genetics and Genomics, Algorithm, Galactosemia (GALT Deficiency), 2021
  • ACMG ACT, 2012
    American College of Medical Genetics and Genomics, Transition to Adult Health Care ACT Sheet, Galactosemia (GALT Deficiency, Classical Galactosemia), 2012

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