Confirm a suspected clinical diagnosis of Noonan syndrome, cardiofacial cutaneous syndrome, costello syndrome, legius syndrome, Noonan syndrome with multiple lentigines (LEOPARD syndrome), Noonan-like syndrome, and Noonan-like syndrome with loose anagen hair (NS/LAH).
Genes tested: BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, RASA2, RIT1, SHOC2, SOS1, SOS2, SPRED1
- Patient Preparation
- Lavender (EDTA) or yellow (ACD Solution A or B).
- Specimen Preparation
- Transport 3 mL whole blood. (Min: 1 mL)
- Storage/Transport Temperature
- Unacceptable Conditions
- Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
|Component Test Code*||Component Chart Name||LOINC|
|2010773||Noonan Disorders Sequencing Specimen|
|2010774||Noonan Disorders Sequencing Interp|
- Cardiofaciocutaneous syndrome
- Costello syndrome
- LEOPARD syndrome
- Multiple lentigines syndrome
- Noonan-like syndrome with loose anagen hair