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).
Massively Parallel Sequencing
Lavender (EDTA) or yellow (ACD Solution A or B).
Transport 3 mL whole blood. (Min: 1 mL)
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Refer to report.
Compliance Statement C: For human genetic inheritable conditions and mutations. This test was developed and its performance characteristics determined by ARUP Laboratories. The U. S. Food and Drug Administration has not approved or cleared this test; however, FDA clearance or approval is not currently required for clinical use. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
GENES TESTED: BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, RASA2, RIT1, SHOC2, SOS1, SOS2, SPRED1
|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