molecular autopsy

molecular autopsy

A term of art for postmortem genetic testing in cases in which the cause of death is unascertained after a thorough autopsy. Molecular autopsies are especially important in sudden cardiac deaths, as a significant minority may be linked by genetic testing to inherited cardiac diseases, including arrhythmic disorders such as congenital long Q-T syndrome and Brugada syndrome, which can be appropriately managed if identified in vivo.
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[5-8] The analysis of DNA from a deceased individual with the aim of identifying genetic variants associated with or causative of a fatal disease (particularly those with a sudden onset) is referred to as a molecular autopsy. The genetic variants targeted during a molecular autopsy are most often associated with diseases that do not manifest with obvious and specific pathological changes.
Studies have shown varying degrees of resolution of previously undetermined cases following a molecular autopsy, with Anderson et al.
"Whole-exome molecular autopsy with gene-specific surveillance is an effective approach for the detection of potential pathogenic variants in SUDY cases," the authors write.
The largest series of studied results of molecular autopsy showed that the largest number of SUD (33%) occurred in dream or during exercise (19).
Keeping this in mind, molecular autopsy should be considered as a part of medicolegal investigation in sudden cardiac deaths without structural alterations.
[3,9,13,19] Advances in postmortem genetic testing (so-called 'molecular autopsy') have made it possible to identify an underlying genetic cause for some sudden unexpected deaths, indicating a cardiac-related cause of death in 35% of these deaths in children and in 10-15% of cases of SIDS.
ese drew a blank as did biochemistry and Another doctor, Kay Metcalfe, a consultant clinical geneticist, arranged for a molecular autopsy to be carried out to try to 'nd out what had been happening in Dexter's heart.
Smith et al., "Prospective, population-based long QT molecular autopsy study of postmortem negative sudden death in 1 to 40 year olds," Heart Rhythm, vol.
This Illumina and UNTHSC partnership will focus on projects, including a range of forensically relevant genetic markers for human identity testing, pharmacogenetics for molecular autopsy, microbial forensics, and additional markers and methods to generate investigative leads in criminal cases and matters of national security.
Ackerman, "The Role of Molecular Autopsy in Unexplained Sudden Cardiac Death," Current Opinions in Cardiology 21, no.
The report, called "Pathogenesis of Unexplained Drowning: New Insights from a Molecular Autopsy," was published in the May edition of the Mayo Clinic Proceedings.
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