A Screening Test for in a Large United States Patient Cohort Identifies Broader Risk of Carbamazepine-Induced Adverse Events.

is strongly associated with life-threatening severe skin hypersensitivity reactions in patients treated with carbamazepine (CBZ) and structurally related medications. FDA-approved labeling recommends screening before CBZ therapy in patients of Asian ancestry. In this study, we aimed to (a) identify a direct method for screening , and (b) evaluate prevalence in a large cohort of United States patients.

Frequency of Alleles Including Structural Variants in the United States.

The gene encodes an enzyme important in the metabolism of many commonly used medications. Variation in is associated with inter-individual differences in medication response, and genetic testing is used to optimize medication therapy. This report describes a retrospective study of allele frequencies in a large population of 104,509 de-identified patient samples across all regions of the United States (US).