Development and validation of a next-generation sequencing panel for clinical pharmacogenetics.

Unlabelled: The rapid clinical implementation of next generation sequencing techniques is  due to its ability to sequence a large number of genetic regions at lower costs  than conventional techniques. However, its use in the field of pharmacogenetics  is still very limited.

Objective: Design, development, implementation and validation of a clinical  pharmacogenetics next-generation sequencing panel.

[Simple virilizing forms of congenital adrenal hyperplasia: adaptation and prospective validation of the molecular screening].

Background And Objective: Congenital Adrenal Hyperplasia (CAH) is not an infrequent genetic disorder for which mutation-based analysis for CYP21A2 gene is a useful tool. Contrarily to salt-wasting forms the basic mutation screening accounts only for 83% of simple virilising (SV) phenotypes. Rare alleles with a local distribution not included in the basic panel may reduce its diagnostic accuracy.