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Article

Incorporating Next-Generation Sequencing as a Second-Tier Test for Primary Carnitine Deficiency.

Molecular genetics & genomic medicine - 1 Sept 2024

Lin Yiming, Zheng Zhenzhu, Lin Weihua, Peng Weilin

Abstract excerpt

BACKGROUND: Newborn screening (NBS) for primary carnitine deficiency (PCD) has poor performance. This study aimed to evaluate the feasibility of incorporating next-generation sequencing (NGS) as a second-tier PCD test. METHODS: Between March and December 2020, 60,070 newborns were screened for inherited metabolic disorders. Newborns with free carnitine (C0) levels below 8.5 μmol/L were selected for second-tier...

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PMID: 39248612
DOI: 10.1002/mgg3.70003
PMCID: PMC11382357

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