Familial hypercholesterolemia (FH) is an inherited genetic disorder characterized by markedly elevated low-density lipoprotein cholesterol (LDL-C) and accelerated atherosclerotic cardiovascular disease (ASCVD), leading to early heart attacks and heart disease. One of the most common genetic disorders, FH affects 1 in 250 individuals in the United…
MSH2 is one of five genes associated with Lynch syndrome, a condition that leaves patients with a significantly increased risk for colorectal and certain other cancers. Using genetic testing to identify patients with Lynch syndrome is important because they can be recommended increased cancer screenings for early detection and prevention.…
When I think back to the initial discussions about what is now TumorNext-Lynch, I remember a vision to offer a comprehensive and convenient test that would be able to confirm a diagnosis or indicate a significantly reduced likelihood of Lynch syndrome. It was clear that the best approach to achieve this was to develop a paired tumor/germline…
Clinical genetic testing – the process of examining our hereditary makeup in a laboratory to help diagnose, treat and even predict disease - has evolved to become a critical component of medical practice and research. But now, with the advent of direct-to-consumer (DTC) genetic tests, people are being offered quick and easy genetic information…
Summer has arrived, and with it comes our seasonal obsession with barbecues, ice cream, and other less-than-healthy (but delicious, nonetheless) food options. Most of us will just be putting our beach bodies in jeopardy with our overindulgence, but for a large portion of the population, there will something much greater at stake: a significantly…
Ambry is dedicated to finding answers for patients. We have made significant updates to our cardiovascular test menu to increase the identification of patients with heritable cardiovascular and lipid disorders, so that you can provide a clear diagnosis and guide personalized medical management for more families. New Tests Test Name Test…
February is National Cancer Prevention Month Since cancer touches so many lives, it is fitting that an entire month is dedicated to building awareness of the many strides being made in unlocking its secrets. Every day, more is discovered that enables earlier and more accurate risk assessment, detection and precise treatment. One of the most difficult…
An estimated 266,000 women and 2,500 men will be diagnosed with breast cancer this year alone, and up to 10% of these may be hereditary. That’s over 26,000 patients and families whose lives could be significantly impacted by genetic testing, which can help guide personalized risk counseling and medical management. Multigene panels, like BreastNext,…
Hearing the words pancreatic cancer brings to mind thoughts of my neighbor, a gentle man and a physician well loved by the community, who in the 1990s suddenly was diagnosed with this disease and passed away. Pancreatic cancer is rare until you know someone who has the disease. With so many advancements in our understanding of pancreatic cancer,…
“Genetic counselor” is not just a job title, though it is one that I have been enormously proud to carry for the past 10 years. In that time, I have come to primarily think of “genetic counselor” as a term which embodies a skill set. Just like Liam Neeson in “Taken,” we have a very special set of skills, however, our skills allow…