• By Taylor Leigh
  • Posted August 15, 2017

Ambry Advances Understanding of Human Disease Through Epilepsy Gene Research

  At Ambry, we believe working together is better, that sharing data is essential to finding answers faster. Our scientists embody these beliefs by collaborating with other talented researchers and physicians to understand human disease, most recently in epilepsy genetics. We are proud to have contributed to the clinical research reviewed …


  • By Melissa Parra, MS, CGC
  • Posted June 30, 2017

How to Build a Smarter Panel

At Ambry, we offer many different options for genetic testing, sometimes more than one for the same disease, which we call “panels”. Ambry’s multi-gene testing panels are comprised of genes that have a threshold of evidence between a gene and the disorder for which a patient is being tested.  These panels are made up of genes that are known …


  • By Deepti Babu, MS, CGC
  • Posted May 17, 2017

Lynch Syndrome - It's more common than you think

Did you know that more than 1 in 4 of those with Lynch syndrome (LS) are missed by current genetic testing guidelines? New research from Ambry Genetics and Ohio State University of nearly 35,000 patients will change how the genetics community thinks about genetic testing strategies, lifetime cancer risks, and medical management for people with …


  • By Deepti Babu, MS, CGC
  • Posted April 3, 2017

Current Genetic Testing Guidelines Miss Some Families with CDH1 Mutations

Hereditary diffuse gastric cancer (HDGC) is an inherited cancer syndrome caused by CDH1 gene mutations. It occurs most frequently in Japan and eastern Asia; current incidence in the U.S. is estimated at 10-40 individuals per 100,000.1 Individuals with mutations in the CDH1 gene have up to an 80% lifetime risk of diffuse gastric …


  • By Deepti Babu, MS, CGC
  • Posted February 2, 2017

Exome Sequencing Provides More Coverage Than You Think

Advances in molecular diagnostics offer clinicians more choices than ever when it comes to disease-targeted genetic testing for their patients.1 However, the amount of options can complicate deciding which test is best for each patient.  Next generation sequencing (NGS)-based clinical genetic tests, such as multi-gene panel testing (MGPT), offer …