Johannes was a 30-year-old married woman from Chicago with a beautiful 5-year-old daughter. Life was good! But, one Tuesday morning, Christine’s life, and those of her family changed forever.
Johannes's genetic search
Johannes's husband decided to start learning more about genetics and heart diseases
Genetic results & diagnosis
6 weeks after her details and saliva swab were received,Christine received her WGS results from DanteLabs. A detailed report and an analysis of all of her cardiovascular system genes were provided. Using the report, with the help of a geneticist, a pathogenic variant in her KCNE3 gene was found and identified as responsible for her cardiac arrest. Christine had the rare genetic cardiac disease: Brugada Syndrome Even more specifically, Christine had the life-threatening version; Type 2.
Johannes’s report had also pointed out that there was a 50% chance that her daughter might alsohave Brugada syndrome. Christine and her husband decided to screen their daughter to find out if she carried the same genetic mutation as her mom. Thank goodness; her daughter’s genome analysis showed that she wasn’t a carrier and so wouldn’t ever develop the disease.