GuideThis guide gives patients and their families information about Whole Exome Sequencing (WES). WES is a genetic test that looks at the genetic information contained in all of our 20,000 genes (and their multiple exons) in one single test.
Inherited cardiovascular conditions affect approximately 1 in 200 people worldwide. They are an important cause of sudden cardiac death in otherwise young, healthy individuals. Genetic testing may directly affect a patient’s medical management and may be the only way to identify their family members who are at increased risk of sudden death.
Blog
In her latest blog, Clinical Liaison Julie Hathaway highlights the ongoing collaborative efforts that are shedding light on genes of uncertain significance.
According to Genetic Informatics Scientist, Mikko Muona, a Plus analysis including del/dups is essential for whole exome-based diagnostics as it increases the diagnostic yield and can significantly decrease the time required for the diagnostic process.
When should you consider WES for your patient?
“Patients with early onset, multiorgan involvement are more likely to have a genetic cause for their symptoms and therefore are more likely to receive a diagnosis through WES”, says Kim Gall, Clinical Liaison at Blueprint Genetics.
This guide aims to give insight to why different quality numbers matter and how they translate to the clinic. This guide includes case examples, and will provide a quick and easy checklist for quality when choosing a testing platform.
Blog
While rapid advances in diagnostic technology have broadened the testing options available to clinicians, this has come at the cost of increasing uncertainty, writes Julie Hathaway in her blog.
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