Expanded Noonan Syndrome Panel
As of October 3 2011, GeneDx’s Noonan syndrome panel will also include the CBL and NRAS genes. The GeneDx Comprehensive Noonan Syndrome Panel has been expanded to include 11 genes (BRAF, KRAS, HRAS, NRAS, MAP2K1, MAP2K2, PTPN11, RAF1, CBL, SOS1, SHOC2) for post-natal testing. Disorders of the Noonan Spectrum, including Noonan, LEOPARD, Cardio-facio-cutaneous (CFC) and Costello syndromes, are a genetically heterogeneous group of autosomal dominant disorders that often have overlapping clinical features. These disorders result from mutations impacting the Ras/MAPK signaling pathway. The expanded Noonan syndrome panel at GeneDx uses methodology to offer sequencing of these 11 genes simultaneously and can provide a low-cost and time effective test.