Test Catalog

Test ID: PMNSR    
Postmortem Noonan and Related Panel

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

Providing a comprehensive postmortem genetic evaluation in the setting of sudden cardiac death and suspicion for Noonan syndrome or related disorders

 

Identification of a pathogenic variant in the decedent, which may assist with risk assessment and 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 BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, SHOC2, and SOS1 genes.

Highlights

This test is intended for use on postmortem samples (eg, formalin-fixed, paraffin-embedded [FFPE] tissue block; dried blood spot) when whole blood is not available.

 

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 postmortem diagnosis of Noonan syndrome, LEOPARD (lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, and deafness) syndrome, cardiofaciocutaneous (CFC) syndrome, Costello syndrome, or a related disorder.

 

Identification of a pathogenic variant may assist with familial risk assessment, 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

Postmortem Noonan and Related Panel

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

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