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GTR Home > Tests > UDP-galactose 4' epimerase, RBC

Overview

Test order codeHelp: GALE

Test name

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UDP-galactose 4' epimerase, RBC (GALE)

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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https://www.mayocliniclabs.com/test-catalog/overview/64372#Specimen
Order URL Help: https://www.mayocliniclabs.com/order-tests/index.html

Specimen source

Peripheral (whole) blood

Methodology

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Biochemical Genetics
AAnalyte
Liquid chromatography-tandem mass spectrometry (LC-MS/MS)

Summary of what is tested

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Clinical utility

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Establish or confirm diagnosis

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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