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GTR Home > Tests > HGEM, P

Overview

Test order codeHelp: HGEMP

Test name

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HGEM, P (HGEMP)

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/62300#Specimen
Order URL Help: https://www.mayocliniclabs.com/order-tests/index.html

Specimen source

Plasma

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

Citations
  • Impact of newborn screening and quality of therapy on the neurological outcome in glutaric aciduria type 1: a meta-analysis. - PubMed ID: 32981931

Clinical validity

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Not provided

Practice guidelines

  • ACMG ACT, 2022
    American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated C5-DC Acylcarnitine, Glutaric Acidemia Type I (GA I), 2022
  • ACMG Algorithm, 2022
    American College of Medical Genetics and Genomics, Algorithm, Glutaric Acidemia Type I (GA I): Elevated C5-DC, 2022

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