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Article

Combining newborn metabolic and DNA analysis for second-tier testing of methylmalonic acidemia.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2019

Peng Gang, Shen Peidong, Gandotra Neeru, Le Anthony, Fung Eula, Jelliffe-Pawlowski Laura, Davis Ronald W, Enns Gregory M, Zhao Hongyu, Cowan Tina M, Scharfe Curt

Abstract excerpt

PURPOSE: Improved second-tier tools are needed to reduce false-positive outcomes in newborn screening (NBS) for inborn metabolic disorders on the Recommended Universal Screening Panel (RUSP). METHODS: We designed an assay for multiplex sequencing of 72 metabolic genes (RUSPseq) from newborn dried blood spots. Analytical and clinical performance was evaluated in 60 screen-positive newborns for methylmalonic...

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Share to Amino Acid Metabolism, Inborn Errors
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 30209273
DOI: 10.1038/s41436-018-0272-5
PMCID: PMC6416784

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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