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GTR Home > Tests > Galactosemia Mutation Panel


Test order codeHelp: GALMP

Test name


Galactosemia Mutation Panel (GALMP)

Purpose of the test


This is a clinical test intended for Help: Diagnosis, Screening



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Click Indication tab for more information.

How to order


Order URL Help: https://www.mayocliniclabs.com/order-tests/index.html

Specimen source

Peripheral (whole) blood


Molecular Genetics
TTargeted variant analysis
PCR with allele specific hybridization
  • ThermoFisher GeneTitan platform

Summary of what is tested

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Click Methodology tab for more information.

Clinical utility


Not provided

Clinical validity


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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