- 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…
- 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 April 24, 2017
Piece by Piece: Exome Sequencing Helps Solve the Autism Puzzle
Autism spectrum disorders (ASDs) are neurodevelopmental disorders (NDDs) seen in 1-2% of children; symptoms and severity differ widely1,2,3, so they can be difficult to diagnose. ASDs can be inherited and involve numerous genes, which creates a challenge for single gene testing. How can genetic testing help children and families, if the child…
- By Jackie Connor
- Posted March 30, 2017
Ambry Talks Plans for Personalized Genomic Test Launch, Third Annual Trivia Night a Hit
On Thursday evening, March 23rd, an audience of more than 100 genetic counselors and geneticists from across the United States listened to Ambry Genetics’ Clinical Genomics Marketing Manager Layla Shahmirzadi, MS, CGC, discuss plans to launch a personalized genomic test for healthy individuals. The talk took place at Events on Jackson venue…
- 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…