9066

GTD Indications Diagnosis Prenatal GTD Samples Accepted Blood DNA DNA (Not Accepted for MLPA) GTD Test Methodology CNV Sequencing GTD Methodology Notes NGS; MLPA of SPRED1 GTD Notes DNA not accepted for MLPA Generic Test name (cms title) Noonan Syndrome and RASopathies GTD Test type Gene Panel GTD Location The Hospital for Sick Children GTD Gene/Platform/Region List BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, RIT1, SHOC2, SOS1, SOS2, SPRED1 (Dosage ONLY) GTD Category Cardiogenetics Immunity Multiple Congenital Anomalies GTD Disease/Condition Noonan syndrome, Noonan-like  syndrome, Costello syndrome, CFC syndrome, LEOPARD syndrome, Legius syndrome