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GTR Home > Tests > Propionic Acidemia

Overview

Test name

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Propionic Acidemia

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

Specimen source

Plasma
Urine

Methodology

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Biochemical Genetics
AAnalyte
Gas Chromatography-Mass SpectrometryTandem mass spectrometry (MS/MS)

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, 2022
    American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated C3 Acylcarnitine, Propionic Acidemia (PA) and Methylmalonic Acidemia (MMA), 2022
  • ACMG Algorithm, 2022
    American College of Medical Genetics and Genomics, Algorithm, Propionic and Methylmalonic Acidemia: C3 Elevated, 2022
  • GMDI/SERN, 2017
    PROP Nutrition Management Guidelines

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