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

Test Catalog

Test Name

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 mutations 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 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.

 

Targeted testing for familial variants (also called site-specific or known mutation testing) is available for all genes on this panel; see KVAR1 / Known Variant Analysis-1 Variant. Contact Mayo Medical Laboratories to confirm the appropriate test code for targeted testing if testing for a gene not included on this panel, or if testing for more than 1 variant is needed.

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.

 

Identification of a pathogenic variant may assist with prognosis, clinical management, familial screening, and genetic counseling.

Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular 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 Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.

Conditional

Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name

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