- By Jessica Grzybowski, MS, CGC
- Posted October 17, 2023
Understanding Gene-Disease Validity in Breast Cancer: The Power of Evidence
When it comes to understanding the genetic basis of diseases, evidence plays a crucial role. Gene-disease validity measures the strength of evidence associating pathogenic variants or changes in a gene to a genetic disease or syndrome. In the context of breast cancer, which affects approximately 1 in every 8 women, grasping gene-disease validity …
- By Jodi Tahsler
- Posted April 11, 2023
Meet the Gene Team: Jeni Herrera-Mullar, MGC, CGC, DMA, presents the Gene of the Month, MSH3
Meet the Gene Team The Gene Team is an essential part of Ambry Genetics. This passionate team of experts is inspired by advancing the science of gene characterization and being able to help patients. For our second installment, we would like to introduce Jeni Herrera-Mullar, MGC, CGC, DMA, Principal Clinical Scientist at Ambry Genetics. Jeni is …
- By Jodi Tahsler
- Posted March 2, 2023
Meet the Gene Team: Bess Wayburn, PhD, CGC, presents the Gene of the Month, SPTBN1
Meet the Gene Team The Gene Team is an essential part of Ambry Genetics. This passionate team of experts is inspired by advancing the science of gene characterization and being able to help patients. For our first installment, we would like to introduce Bess Wayburn, PhD, CGC, Principal Clinical Scientist at Ambry Genetics. Bess Wayburn …
- 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 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 …