Post-Mortem Genetic Testing

 

Why do Postmortem genetic testing?

A sudden unexplained death in the family is always tragic, but can be even more so when it occurs in an infant or young adult (≤45 years).  Often, these deaths are assumed to be cardiac related and many are caused by underlying genetic conditions.  Autopsies are an important component to uncovering the cause of death, but up to 30% of the time no abnormalities are found in the heart.  A molecular autopsy, or postmortem genetic testing, can provide another opportunity to identify or confirm the cause of death.

Especially when sudden cardiac death occurs in the young, genetic testing may identify inherited cardiac disease in 25-30% of these individuals.  This provides family an opportunity for closure, but also allows other blood relative to be tested for the identified, and often treatable, genetic condition.  Once identified, these at risk family members can gain access to appropriate screening and surveillance measures.

 

What is Next Gen PM?

Next Gen PM is a test that is performed on a blood or tissue sample after an individual has died.  The goal of postmortem genetic testing is to try to identify the cause of death and identify if blood relatives are at-risk for a genetic disease or sudden death.

NextGen PM testing is done using whole exome sequencing. The analysis uses a specialized bioinformatics pipeline, focusing on regions of the exome or genes that are known to be associated with sudden death.  Only variants classified as pathogenic or likely pathogenic will be reported.  Carrier status and incidental findings not related to the reason for testing will not be reported. DNA banking of residual sample can also be initiated at no charge, if elected by the family.

The UW Cytogenetic and Molecular Genetic Laboratory offers Next Gen PM for certain cases of sudden death, including suspected sudden cardiac death.  This service is free to those who qualify.

Clinical exome testing is also available to those who do not qualify for Next Gen PM (SLH test code 895M64).  Test information is available in our Online Reference Manual.  For pricing, please call our laboratory at 608-262-0402.

 

Does my family qualify for Next  Gen PM?

Was the decedent 45 years old or younger?

Did/does the decedent and their family live in Wisconsin?

Was the autopsy negative (meaning no cause of death was identified)?

If all of the answers to the above questions are ‘yes’, then the family may qualify for Next Gen PM.  To learn more, please call our laboratory genetic counselor at 608-262-0402.

 

How do I request NextGen PM testing?

Obtaining and safeguarding a postmortem sample for possible future genetic testing is one of the most crucial steps in postmortem testing.  Given the importance of having a quality specimen available for testing, the UW Cytogenetic and Molecular Genetics Laboratories will perform DNA extraction and provide short term storage of the DNA for any postmortem specimen free of charge (submission form linked below).

Preferred sample types include:

  1. Blood: 2-10mL in EDTA (purple top) tube
  2. Heart: minimum 2mmx2mmx2mm section of fresh tissue in cytogenetics transfer media or minimum cell culture media (MEM)
  3. Skin: deep skin punch (minimum 2mmx2mmx2mm section) of fresh tissue into cytogenetics transfer media or minimum cell culture media (MEM)

Following a negative autopsy result and discussion with the next-of-kin, request for NextGenPM testing can be made by submitting a completed postmortem (PM) testing submission and consent form along with a test requisition form (links below) to the laboratory. A sample for testing is also required and should be sent concurrently with the test request forms if a postmortem sample has not already been submitted for DNA extraction and short term storage.

 

NextGen PM results will be sent to the consenting healthcare provider for the purposes of discussing risk to family members.

 

Postmortem testing options handout

 

Forms

Short term storage form

PM testing submission form and consent

UW Cytogenetic Services request form (see home page)