• By Ambry Genetics
  • Posted May 1, 2020

Ambry Genetics Virtual Booth ACMG 2020

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- …

  • By Tyler Landrith, PhD
  • Posted March 5, 2020

Study Published in Nature Partner Journal Precision Oncology Confirms Clinical Utility of Simultaneous RNA and DNA Genetic Testing

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 …

  • By Andy Castro
  • Posted February 25, 2020

When Moments Matter, ExomeNext-Rapid Finds Answers

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 …

  • By Holly LaDuca, MS, CGC
  • Posted January 7, 2020

Study Demonstrates that RNA Genetic Testing Reduces Inconclusive Results Providing More Clarity to Patients and Healthcare Providers

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 …

  • By Marcy Richardson, PhD
  • Posted September 10, 2019

3 Ways RNA Analysis will Change the Future of Genetic Testing

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 …

  • By Ambry Genetics
  • Posted May 15, 2019

Familial Hypercholesterolemia: A Silent Threat That is too Often Missed

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 …

  • By Jessica Profato, MS, CGC
  • Posted May 7, 2019

RNA Genetic Testing Brings Clarity to Lynch Syndrome Patients

  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. MSH2, …

  • By Monalyn Umali Salvador, MS, CGC
  • Posted April 4, 2019

Paired Tumor/Germline Testing for Lynch Syndrome

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 …

  • By Ambry Genetics
  • Posted March 28, 2019

DTC Genetic Testing vs Clinical Testing | Direct To Consumer

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 …

  • By Andy Castro
  • Posted March 12, 2019

Food for Thought: Genetic Testing and the Fight Against Familial Hypercholesterolemia

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 …