Eric Miller and Anil Bhardwaj join me from CeGaT, a biotechnology company and world-leader in genetic analyses for a wide range of medical, research and pharmaceutical applications. They offer a lot of resources and ways to improve patient lives in the mito community and they’ll highlight those opportunities for us in this episode.
EPISODE HIGHLIGHTS
What is next generation sequencing?
In terms of analyzing DNA, the process has undergone shifts and is now massive parallel sequencing of the DNA. Various structures of DNA are amplified up to analyze them and make a diagnosis or look at it scientifically and perform research. For someone in genetics, next generation sequencing (NGS) allows stretches of DNA to be massively parallel amplified and see errors that may be causing a disease.
Is there a benefit for patients with a genetic diagnosis to do additional testing?
If you’ve had genetic testing, it can be beneficial to make sure the lab is re-testing in case of new markers that could be identified as causative, it would be helpful to know.
Can patients contact you directly for testing or should they go through their physician?
They can contact us directly and we will direct them through the system to access testing. If you’re requesting diagnostic testing, it has to be made by a physician, but we’re happy to connect patients to our own in-house physicians to access testing. We will also work directly with a patient’s physician and help with access to resources, education and genetic counseling.
What does the testing process look like?
We have a collection kit we make available to collect DNA by blood draw. Once the sample has been received, it will be tested and a report will be generated within a few weeks and returned to the physician.
How do you help patients with family planning?
The family planning panel analyzes all recessive mutationsgenetic variant, genetic change so they can understand any risk of passing on genetic mutations to offspring. This helps to uncover the probabilities of passing on a genetic disease and minimizing risk.
LINKS & RESOURCES MENTIONED
How ExomeXtra® Solves Patient Cases: A Four-Year Retrospective
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