• By Elizabeth Chao, MD, FACMG
  • Posted February 29, 2024

10 Ways Genetic Laboratories Can Support the Rare Disease Community

Rare diseases are not as rare as one might think—there are more than 6,000 identified rare diseases affecting over 300 million people worldwide. Over 70% of rare diseases have a genetic cause, and as a leading commercial laboratory, we understand the important role we play in the rare disease community. Every day, we provide genetic test results …


  • By Catherine Schultz, MS, CGC
  • Posted February 26, 2024

From Awareness to Action: Supporting Rare Disease Today and Everyday

February 29th, the rarest day in the calendar, serves as a beacon of hope and solidarity for those affected by the rarest of diseases. Rare Disease Day is dedicated to raising awareness about rare diseases and the millions of individuals around the world affected by them.   It is also a time to shine a light on the incredible work being done …


  • By Meagan Farmer
  • Posted December 8, 2023

A Genetic Counselor’s Experience with Proactive Reanalysis through Patient for Life: An Interview with Kelly Minks, MS, CGC

At the National Society for Genetic Counselors Annual Conference, I had the chance to sit down with Kelly Minks, MS, CGC. Ms. Minks is a genetic counselor in the Department of Neurology at the University of Rochester Medical Center, with a clinical practice focused on pediatric neurology. She routinely orders exome testing for children with developmental …


  • 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 …


  • 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 …


  • 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 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 …


  • 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 …