Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of Noonan syndrome (NS) or related disorders
Establishing a diagnosis of a NS or related disorders, in some cases, allowing for appropriate management and surveillance for disease features based on the gene involved
Identifying variants within genes known to be associated with increased risk for disease features allowing for predictive testing of at-risk family members
This test includes next-generation sequencing and supplemental Sanger sequencing to evaluate the genes tested on this panel.
Prior Authorization is available for this assay; see Special Instructions.
This test uses next-generation sequencing to test for variants in the BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, SHOC2, and SOS1 genes.
This test may aid in the diagnosis of Noonan syndrome, LEOPARD syndrome, cardiofaciocutaneous (CFC) syndrome, Costello syndrome, or a related disorder. This test cannot distinguish between germline variants associated with Noonan syndrome and related disorders versus somatic (oncogenic, nongermline) variants, which may be associated with hematologic neoplasms. Therefore, this test does not provide diagnostic, prognostic, or therapeutic information for somatic variants. Variants detected by this test are interpreted as germline unless otherwise noted in the interpretation.
Identification of a pathogenic variant may assist with prognosis, clinical management, familial screening, and genetic counseling.
