Genetic Test Details
Noonan Syndrome and RASopathies
Test Information
- Titre
-
Noonan Syndrome and RASopathies
- Catégorie
- Cardiogenetics , Immunity , Multiple Congenital Anomalies
- Sub Category
-
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
- Gene Panel
- Samples Accepted
- Blood , DNA , DNA (Not Accepted for MLPA)
- Indications
- Diagnostics , Prenatal
- Test Methodology
- CNV , 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: 18 juin 2025