Mobile Site ›
Print Friendly View

Test ID: NS1    
Noonan Spectrum Sequence Panel 1 for KRAS, PTPN11, RAF1, SOS1, Blood

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

Conditional

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

Aiding in the diagnosis of Noonan syndrome and related phenotypes such as LEOPARD syndrome

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

This test involves simultaneous sequence analysis of the 4 genes most commonly involved in Noonan syndrome. This test is more cost effective than ordering each of the 4 genes individually. Please call 800-533-1710 and ask to speak to the genetic counselor if you have questions about testing strategy for Noonan syndrome.

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

Polymerase Chain Reaction (PCR) Followed by DNA Sequence Analysis

(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)

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

Noonan Spectrum Sequence Panel 1, B

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

PTPN11
SHP2
Cardiofaciocutaneous (CFC)
Costello Syndrome (CS)
LEOPARD Syndrome (LS)
Multiple Lentigines
Noonan Syndrome (NS)