- By Andrew Giles, MS, CGC
- Posted December 5, 2023
Addressing equity in exome sequencing: Proactive reanalysis through the Ambry Patient for Life program helps to reduce racial, ethnic, and ancestral disparities
We know there are healthcare disparities among racial and ethnic groups; these disparities also impact genetic testing. Research and clinical studies have lacked diverse representation and have been predominantly composed of people with European ancestry. As rates of testing have rapidly increased, this gap has only widened. This means much of…
- By Nicole Teed
- Posted November 14, 2023
Peace of Mind: Michelle Majewski Trusts the Patient for Life Program to Share Answers for Her Son Owen
Like most working moms, Michelle Majewski is busy. She spends her days juggling a career as a sales account executive, managing a household, and spending quality time with her husband, their son Owen, and their two dogs. Owen, now 4 years old, is a charmer. He also has extra medical needs, without a clear diagnosis or explanation. The search for…
- By Catherine Schultz, MS, CGC
- Posted July 18, 2023
Gene of the Month: KCNH5
In 2013, Emma’s parents1 hoped that a new genetic test, whole exome sequencing (WES), would reveal why their 2-year-old daughter developed epileptic encephalopathy. However, when Emma’s WES results were negative, her parents were disappointed. How could they examine the whole exome and not find an answer? For patients with rare genetic disorders…
- By Morgan Turpin, MB(ASCP), CGMBS
- Posted June 8, 2023
Morgan Turpin and Son Shayne Find Connection with Dravet Syndrome Families
Morgan Turpin, MB(ASCP), CGMBS, Technical Systems Manager, is an Ambry Genetics employee who has firsthand knowledge of the benefits of exome testing. Her son Shayne went through a diagnostic odyssey of his own before he was a toddler. Exome testing opened up many possibilities for the family, including an online community and treatment options.…
- By Jodi Tahsler
- Posted May 18, 2023
Meet the Gene Team: Jennifer Huang, PhD, presents the Gene of the Month, PTPN4
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 third installment, we would like to introduce Jennifer Huang, PhD, Senior Clinical Scientist at Ambry Genetics. Dr. Jennifer Huang is a…
- 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 is a…
- 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 Exome…
- 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 Billy Chen
- Posted June 25, 2018
Coming of Age: Whole Exome Sequencing
Whole exome sequencing (WES) is an efficient way to identify genetic variants in all of an individual's genes. It does this by sequencing the functionally relevant regions of approximately 20,000 genes of the human genome. Compared to traditional genetic testing trajectory, which tends to be more time-consuming, recent studies indicate WES can…
- By Billy Chen
- Posted December 13, 2017
Finding Answers to Neurological Disorders with Clinical Exome Sequencing
At Ambry, “Finding Answers” is at the core of what we do. We know patients and clinicians depend on us to find answers that help them better understand diseases, and improve outcomes. 2017 has been a busy and productive year for Ambry. In particular, using Ambry’s clinical exome test, ExomeNext, we have been successful in identifying…