Noonan Syndrome and RASopathies
| Test Information | |
|---|---|
| Test Name | Noonan Syndrome and RASopathies |
| Lab (Location) | The Hospital for Sick Children |
| Category | Cardiogenetics, Immunity, Multiple Congenital Anomalies |
| Subcategory | 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 Diagnosis | Diagnosis, Prenatal |
| Test Methodology | CNV, Sequencing |
| Methodology Notes | NGS; MLPA of SPRED1 |
| Diseases/Conditions | Noonan syndrome, Noonan-like  syndrome, Costello syndrome, CFC syndrome, LEOPARD syndrome, Legius syndrome |
| Notes | DNA not accepted for MLPA |