Noonan Syndrome and RASopathies

Test Information

Title
Noonan Syndrome and RASopathies
Lab
Category
Cardiogenetics, Immunity, Multiple Congenital Anomalies
Test Name (CMS Title)
Noonan Syndrome and RASopathies
Gene/Platform/Region List
BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, RIT1, SHOC2, SOS1, SOS2, SPRED1 (Dosage ONLY)
Test type
Samples Accepted
Blood, DNA, DNA (Not Accepted for MLPA)
Indications
Diagnosis
Test Methodology
Sequencing
Methodology Notes
NGS; MLPA of SPRED1
Disease/Condition
Noonan syndrome, Noonan-like  syndrome, Costello syndrome, CFC syndrome, LEOPARD syndrome, Legius syndrome

Last Updated: November 14, 2025

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