Article
Exome sequencing-based molecular autopsy of formalin-fixed paraffin-embedded tissue after sudden death.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Oct 2017
Bagnall Richard D, Ingles Jodie, Yeates Laura, Berkovic Samuel F, Semsarian Christopher
Abstract excerpt
PURPOSE: Sudden death in the young is a devastating complication of inherited heart disorders. Finding the precise cause of death is important, but it is often unresolved after postmortem investigation. The addition of postmortem genetic testing, i.e., the molecular autopsy, can identify additional causes of death. We evaluated DNA extracted from formalin-fixed paraffin-embedded postmortem tissue for exome...
Topics
- Adult
- Autopsy
- DNA
- Death, Sudden
- Exome
- Female
- Formaldehyde
- Genetic Predisposition to Disease
- Genetic Testing
- High-Throughput Nucleotide Sequencing
- Humans
- Male
- Mutation
- NAV1.1 Voltage-Gated Sodium Channel
- Paraffin Embedding
- Sequence Analysis, DNA
- Exome Sequencing