Post Mortem Genetic Testing FAQs
What is Post Mortem Genetic Testing?
Post mortem genetic testing is when the sample is collected after the patient has died. The goal of post mortem genetic testing is often to try to identify the cause of death. Genetic testing is a medical test that searches for alterations in chromosomes and genes. There are numerous different genetic tests and choosing the appropriate test depends upon an individual's medical and family history. Typically, genetic testing is ordered by genetics specialists in an outpatient setting. Specimens used for outpatient genetic testing include blood, tissue and saliva.
Once the person has passed away, additional issues are introduced which can make the genetic testing process more difficult to navigate. Most commonly, these issues include sample collection/storage and billing.
Why should I save a sample?
- Because genetic testing can:
- Identify or confirm the cause of the death.
- Confirm a suspected clinical diagnosis.
- Provide the family with an explanation and closure.
- Allow for other family members to be tested to determine if they are at increased risk for a genetic disease.
- Without a proper sample, genetic testing cannot be performed on the deceased.
When should I save a sample?
- Individuals 40 years old and younger
- Sudden unexplained death, especially if during exercise or during sleep (see sudden cardiac death statistics below)
- Possible cardiac etiology
- Drowning
- Single motor vehicle accident
- Unexplained seizure
- Family history of sudden death or inherited heart disease
- Cardiomyopathies (hypertrophic, idiopathic dilated, restrictive, arrhythmogenic)
- Thoracic aneurysm
- Known genetic diagnosis
Sudden cardiac death is often genetic in origin
What sample do I save?
- 7 to 10 ccs of fresh blood in pink/lavender/EDTA blood tubes
- Flash frozen or fresh tissue
Once I save the sample what do I do with it?
- Storage: Once the correct sample is saved it must be stored appropriately to ensure the integrity of the DNA is preserved. If the blood is to be stored short term (less than 4 weeks after autopsy) the sample should be kept in a refrigerator (4°C). For longer storage (months to years), samples should ideally be moved to a -20°C to -70°C freezer and remain there until they can be shipped to an appropriate laboratory or DNA bank.
- Shipping: Once a sample is frozen, it should not be thawed until arriving in the genetic testing laboratory.
- DNA quality is just as dependent on the manner in which a sample is sent as the type of sample it is extracted from.
- To prevent thawing, all frozen samples should be packed in a Styrofoam container packed tightly with dry ice.
- Fresh samples (less than 24 hours old) may be shipped at room temperature.
- All samples, frozen and fresh, should be packaged according to hazardous material guidelines and shipped overnight by a courier or reliable shipping company to either a DNA bank or Clinical Genetic Testing Laboratory according to the decision of the family or healthcare professional.
- Payment: When such testing is initiated by an agency outside of the investigating medical examiner or coroner, shipping materials and costs of delivery should be arranged through the laboratory and the family.
What information is important to share with the surviving family members?
- Which sample has been saved and how long it will be stored at the ME/coroner's office.
- This allows them to discuss the available options for this DNA specimen with their managing physicians.
- The sudden unexplained death of a family member may warrant a medical evaluation for surviving family members.
- Example: If an inherited cardiac condition is suspected, then first degree family members of the deceased individual could be advised to seek cardiac evaluation.
- Genetic counselors are available to speak with the family.
- Genetic counselors can work with family members in a clinical setting to provide a risk assessment and help them navigate the available options for the saved DNA specimen.
Who do I contact if I have any questions?
Genetic counselors have a unique set of skills which make them experts in guiding both patients and providers through the genetic testing process. To help you navigate the post-mortem genetic testing process you can contact a cardiovascular genetic counselor on this map or through using the Find A Genetic Counselor tool on the NSGC website and entering cardiology as the specialty.
Role of a genetic counselor
To learn more about the role of genetic counselors and the various fields of specialty please visit our healthcare provider's website.
Additional resources
References
- Tester DJ, et al. The molecular autopsy: Should the evaluation continue after the funeral? Pediatr Cardiol. 2012 Mar 33(3):461-70. Epub 2012 Feb 4.
- Behr 2003 et al “Cardiological assessment of first-degree relatives in sudden arrhythmic death syndrome.” Lancet. 2003 Nov 1, 362(9394):1457-9.
- Tan, et al. (2003). “Sudden unexplained death: Heritability and diagnostic yield of cardiological and genetic examination in surviving relatives.” Circulation. 2005 Jul 12;112(2):207-13. Epub 2005 Jul 5.
- Ackerman MJ, Priori SG, Willems S, Berul C, Brugada R, Calkins H, Camm AJ, Ellinor PT, Gollob M, Hamilton R, Hershberger RE, Judge DP, Le Marec H, McKenna WJ, Schulze-Bahr E, Semsarian C, Towbin JA, Watkins H, Wilde A, Wolpert C, and Zipes DP. Heart Rhythm. 2011 Aug, 8(8):1308-39. HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the Channelopathies and Cardiomyopathies. This document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA)
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Find members of NSGC through the Find A Genetic Counselor search. Genetic counselors work in university medical centers, community clinics, public health departments, diagnostic laboratories, and many other health, education, and related agencies.
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