Purpose/Principle

The CHCO Noonan Spectrum Disorders/RASopathies Panel utilizes next-generation sequencing technology to detect genomic variants in genes that are associated with RASopathies which is a group of phenotypically related but genetically heterogenous disorders including neurofibromatosis type 1, Noonan syndrome, Noonan syndrome with multiple lentigines, capillary malformation–arteriovenous malformation syndrome, Costello syndrome, cardio-facio-cutaneous syndrome, and Legius syndrome. The panel evaluates the coding regions and adjacent intronic bases of 32 genes for DNA variants. Copy number events are assessed by supplementing the exonic regions of interest with uniformly placed genomic hybridization probes. The assay is designed to detect SNV and small indel events with >99% accurate and CNV events with a >1 MB resolution.??