RASopathies are a group of clinically and genetically heterogeneous disorders caused by dysregulation of the RAS/MAPK signaling pathway, which plays a central role in cell proliferation, differentiation, and embryonic development. Disruption of this pathway leads to a spectrum of syndromes, including Noonan syndrome, Costello syndrome, cardio-facio-cutaneous syndrome, Noonan syndrome with multiple lentigines (LEOPARD syndrome), and Legius syndrome.

The Diagnostic Panel for RASopathies includes core pathway genes such as PTPN11, SOS1, RAF1, KRAS, NRAS, BRAF, MAP2K1, and MAP2K2. These genes encode proteins involved in intracellular signaling cascades that regulate developmental processes.

This panel is recommended for patients with clinical features suggestive of a RASopathy, particularly those with congenital heart defects (e.g., pulmonary valve stenosis or hypertrophic cardiomyopathy), characteristic facial features, short stature, developmental delay, lymphatic abnormalities, or multiple congenital anomalies.