Rapid and specific test that detects >99% cases of Prader Willi Syndrome Genetic diagnosis helps couple make informed reproductive choices A germline mutation in the VHL gene is responsible for Von-Hippel-Lindau disease The right molecular assay supports clinical suspicion in a case of Silver-Russell Syndrome Highly sensitive assay detects a somatic mutation Molecular assay confirms a mutation in the gene that causes Congenital Adrenal Hyperplasia
