Test Catalog

Test ID: NSRGP    
Noonan Syndrome and Related Disorders Multi-Gene Panel, Blood

Useful For Suggests clinical disorders or settings where the test may be helpful

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

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

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.

Highlights

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.

Special Instructions Library of PDFs including pertinent information and forms related to the test

Method Name A short description of the method used to perform the test

Custom Sequence Capture and Targeted Next-Generation Sequencing Followed by Polymerase Chain Reaction (PCR) and Supplemental Sanger Sequencing

NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

Noonan Syndrome and Related Panel,B

Aliases Lists additional common names for a test, as an aid in searching

Cardiofaciocutaneous (CFC)
Costello Syndrome (CS)
LEOPARD Syndrome (LS)
Multiple Lentigines
Noonan Syndrome (NS)
BRAF
CBL
HRAS
KRAS
MAP2K1
MAP2K2
NRAS
PTPN11
RAF1
SHOC2
SOS1
Next Gen Sequencing Test