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Test ID: PMARP    
Postmortem Arrhythmia Panel, Varies

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

Providing a postmortem genetic evaluation in the setting of sudden unexplained death and suspicion for long QT or Brugada syndrome

 

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 AKAP9, ANK2,CACNA1C, CACNA2D1, CACNB2, CAV3, GPD1L, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, SCN1B, SCN3B, SCN4B, SCN5A, and SNTA1 genes.

Highlights

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

 

This test uses next-generation sequencing to test for variants in the AKAP9, ANK2, CACNA1C, CACNA2D1, CACNB2, CAV3, GPD1L, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, SCN1B, SCN3B, SCN4B, SCN5A, and SNTA1 genes.

 

This test may aid in the postmortem diagnosis of long QT or Brugada syndrome.

 

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 Arrhythmia Panel

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

AKAP9
Andersen-Tawil Syndrome
ANK2
CACNA1C
CAV3
Jervell and Lange-Nielsen Syndrome
KCNE1
KCNE2
KCNH2
KCNJ2
KCNJ5
KCNQ1
Long QT Syndrome
LQTS
Next Gen Sequencing Test
Romano-Ward Syndrome
SCN4B
SCN5A
SNTA1
Timothy Syndrome
BRS
Brugada syndrome
CACNA2D1
CACNB2
GPD1L
KCNE3
KCNJ8
SCN1B
SCN3B
Formalin-fixed paraffin-embedded tissue
FFPE
Postmortem
Sudden cardiac arrest
Sudden cardiac death
Sudden unexplained death
Sudden death