Noonan Syndrome and RASopathies
Test Information
- Titre
-
Noonan Syndrome and RASopathies
- Catégorie
- 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
- Diagnostics
- Test Methodology
- Sequencing
- Methodology Notes
-
NGS; MLPA of SPRED1
- Disease/Condition
-
Noonan syndrome, Noonan-like syndrome, Costello syndrome, CFC syndrome, LEOPARD syndrome, Legius syndrome
Dernière Mise à Jour: 09 décembre 2025