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Genet Med. 2018 Jul;20(7):683-691. doi: 10.1038/gim.2018.45. Epub 2018 Mar 15.

Laboratory analysis of organic acids, 2018 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG).

Author information

1
Department of Pediatrics, University of California, San Francisco, San Francisco, California, USA.
2
Greenwood Genetic Center, Greenwood, South Carolina, USA.
3
Department of Pathology, Stanford University Medical Center, Stanford, California, USA.
4
Department of Pathology, Seattle Children's Hospital, Seattle, Washington, USA.
5
Laboratory Corporation of America Holdings (LabCorp), Research Triangle Park, North Carolina, USA.
6
Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA.
7
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA. qsun@bcm.edu.

Abstract

Organic acid analysis detects accumulation of organic acids in urine and other body fluids and is a crucial first-tier laboratory test for a broad spectrum of inborn errors of metabolism. It is also frequently ordered as follow-up for a positive newborn screen result, as recommended by American College of Medical Genetics and Genomics newborn screening ACTion sheets and algorithms. The typical assay is performed by gas chromatography-mass spectrometry. These technical standards were developed to provide guidance for laboratory practices in organic acid analysis, interpretation, and reporting. In addition, new diagnostic biomarkers for recently discovered organic acidurias have been added.

PMID:
29543224
DOI:
10.1038/gim.2018.45
[Indexed for MEDLINE]

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