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Whole genome sequencing from dried blood spots for newborn screening of Menkes disease and 36 other actionable inherited neurometabolic disorders.

Molecular genetics and metabolism - 1 Mar 2026

Kaler Stephen G, Venkataraman Lalitha, Pham Minh T, Kennedy Benjamin J, Marhabaie Mohammad, Koboldt Daniel C

Abstract excerpt

Tandem mass spectrometry is currently used by the Ohio Department of Health to screen newborn infants for 36 medically actionable inborn errors of metabolism. As a complementary test for infants with abnormal biochemical screens, whole genome sequencing (WGS) theoretically could reduce false-positive results, facilitate timely case resolution and, in some instances, indicate a more specific diagnosis than...

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Identifiers

PMID: 41687279
DOI: 10.1016/j.ymgme.2026.109763

Genes

ATP7A

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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