• By Meghan Towne, MS, CGC, LCGC
  • Posted January 30, 2024

Ambry Collaborations with GeneMatcher Help Further Disease Gene Discovery and Improve Diagnostic Rates

The Problem of Unsolved Cases While our knowledge of human genetics has grown significantly, many gaps remain in our understanding of genes and their contribution to human disease.1-3 We have a lot to learn: •    Only about 16% of all the genes in the human body have an established disease association. •    The genetic cause is known …


  • By Deepti Babu, MS, CGC
  • Posted June 7, 2017

Improve Patient Care by Reducing Ambiguity in Gene-Disease Relationships

New discoveries are rapidly expanding our understanding of the human genome, and diagnostic laboratories use different approaches to interpret this knowledge. A challenge for laboratories is translating vast amounts of published evidence to determine the clinical validity of gene-disease relationships, which need to be integrated into a patient’s …


  • 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 …