Thank you for stopping by! Below you will find information on our research that was accepted by ACMG, along with some new and exciting things happening at Ambry. We hope that you are staying safe and healthy. Research Posters: 1) Genetic Testing Utilization Management: Saving Time, Saving Money, And Maximizing Clinical Utility For Patients-…
DNA-based multigene panel testing (MGPT) is a commonly used approach for the detection of patients with or at-risk for inherited cancers. Despite years of advancement in genetic testing, patients may still receive uncertain results or receive a negative result despite having a personal or family history suggestive of hereditary cancer. RNA genetic…
Quite often there is the connotation that Diagnostic Exome Sequencing (DES) is too slow, examines too many genes, is too expensive, and has limited clinical utility. Ambry Genetics counters those thoughts about DES with our ExomeNext-Rapid test (Test Code: 9999R). Ambry’s recent, peer-reviewed publication demonstrates how Rapid Diagnostic Exome…
Genetic testing plays a critical role in the delivery of personalized medicine. Take, for instance, hereditary cancer, where genetic testing can help inform treatment and other management decisions for both individuals with an active cancer diagnosis and those at an increased risk for cancer. For the latter, genetic testing helps minimize their…
When it comes to medical questions, sometimes “unknown” is the worst answer you can receive. Uncertainty prevents a family from developing an action plan to combat bad news, or from achieving peace of mind when receiving good news. Yet for many patients who undergo genetic testing due to a suspected hereditary cancer syndrome, they are left…
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…