Article

Whole Genome Sequencing from Dried Blood Spots for Newborn Screening of Menkes Disease and 36 Other Actionable Inherited Neurometabolic Disorders

2024-12-04

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) could reduce false-positive results, facilitate timely case resolution and, in some instances, indicate a more specific diagnosis than obtained initially. Me...

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Literature Corpus work: f0261396-e43a-5b91-a5f3-e29a4c8a2fe8
DOI: 10.20944/preprints202412.0369.v1

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