• By David Pfeifer
  • Posted December 3, 2018

New and Improved Cardio Menu: Find Answers for More Patients with Inherited Cardiovascular Disease and Lipid Disorders

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 …


  • By Virginia Speare, PhD, CGC
  • Posted November 20, 2018

Answering 4 Important Questions about Genetic Testing for Hereditary Pancreatic Cancer

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, …


  • By Jessica Profato
  • Posted November 12, 2018

3 Common Questions from Healthcare Providers about Genetic Testing for Hereditary Breast Cancer

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, …


  • By Alexandria Meyer
  • Posted November 8, 2018

I am a Genetic Counselor- What Does That Mean?

“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 …


  • By Carrie Horton, MS, CGC
  • Posted October 3, 2018

Science In 60: Looking Beyond BRCA 1/2 to Identify Women at Risk for Breast Cancer

The adoption of multi-gene panel testing (MGPT) has been a game changer in the hereditary breast cancer arena. As evidence surrounding the growing number of breast cancer predisposition genes has accumulated,  ATM, CHEK2, and PALB2 have stood out and become undisputed susceptibility genes conferring a moderate risk for …


  • By Deepali Shinde, PhD
  • Posted September 19, 2018

Finding Answers Through Quality Exome Testing

Did you know that of the nearly 20,000 genes that humans possess, only a quarter are currently known to cause genetic disorders? The remainder often referred to as “novel or candidate disease genes” are yet to be connected to a genetic condition, and many patients can remain undiagnosed until new disease gene discoveries are made. Less than …


  • By Layla Shahmirzadi, MS, CGC, LGC
  • Posted September 4, 2018

3 Things You Need to Know about OvaNext

Ovarian cancer can often appear quietly, with non-specific symptoms, making it difficult to detect at an early stage. Knowing if someone is at an increased risk for ovarian and other cancers can be critical for guiding early detection, prevention, or treatment. Genetic testing can help identify patients with hereditary cancer, allowing for personalized …


  • By Tina Pesaran, MA, MS, CGC
  • Posted August 23, 2018

5 Things You Need to Know about Ambry’s Variant Review Process

As a healthcare provider, you most likely hope for a genetic testing result that provides some kind of clear answer about what to do next. However, sometimes genetic testing will reveal a variant of unknown significance (VUS), which can be a challenge for both you and your patients. These variants are sort of “innocent until proven guilty” …


  • By Shuwei Li
  • Posted August 21, 2018

Science In 60: Tumor Characteristics Provide Evidence for Mismatch Repair Variant Pathogenicity

It is estimated that as many as 1 in 300 people may carry a gene mutation associated with Lynch syndrome. This is important to know because Lynch syndrome also puts individuals at a higher risk for many other cancers including colon, uterine, ovarian, pancreatic, stomach, liver and bladder cancer. The good news is genetic testing can determine …


  • By Rhonda Lassiter
  • Posted August 10, 2018

Science in 60: Attacking a VUS from Multiple Angles

Neurodevelopmental disorders (NDDs) involve a wide range of symptoms and severity. Individuals may present with multiple indications including epilepsy, autism, intellectual disability, developmental delay, dysmorphic features, and other congenital anomalies. The broad and nonspecific nature of NDDs can lead to significant diagnostic challenges. Multi-gene …