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

Yiming LinZhenzhu ZhengWeihua LinWeilin Peng

Published in: Molecular genetics & genomic medicine (2024)

Our results showed that the PPV reached 20% after combining with second-tier NGS. The MS/MS-based NBS and second-tier NGS combination can effectively reduce the false-positive rate and detect PCD in patients.

Keyphrases

end stage renal disease
ms ms
ejection fraction
chronic kidney disease
newly diagnosed
peritoneal dialysis
prognostic factors
copy number
high resolution
gas chromatography