Article
Clinical UGT1A1 Genetic Analysis in Pediatric Patients: Experience of a Reference Laboratory.
Molecular diagnosis & therapy - 1 Jun 2017
Moyer Ann M, Skierka Jennifer M, Kotzer Katrina E, Kluge Michelle L, Black John L, Baudhuin Linnea M
Abstract excerpt
BACKGROUND: Neonatal hyperbilirubinemia can be severe or prolonged and warrant exploration into the underlying etiology, which may include genetic assessment of UGT1A1 for inherited disorders (i.e. Crigler-Najjar syndrome or Gilbert syndrome). METHODS: In our reference laboratory, we performed UGT1A1 gene sequencing analysis on 346 pediatric patients referred for a clinical indication of hyperbilirubinemia....
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