- By Meghan Towne, MS, CGC, LCGC
- Posted April 2, 2024
Family Trios Gene Reclassification: Optimizing Diagnostic Potential Impact of Exome Sequencing
The ability of exome sequencing (ES) to detect variants across the genetic code makes it a powerful diagnostic tool, reducing the number of tests and time to diagnose patients with rare disorders. However, with this broad detection range comes the challenge of identifying which of hundreds or thousands of rare variants may be clinically meaningful…
- By Marcy Richardson, PhD
- Posted March 28, 2024
APC: New Takes on an Old Gene
A Brief History of APC The APC pathway was discovered in 1982 (more than 40 years ago!). APC is a tumor suppressor gene, meaning it helps the cell division process happen in a controlled way, which helps prevent tumor development. In 1991, Kinzler and Vogelstein discovered that pathogenic variants in the APC gene are…
- By Shoji Ichikawa, PhD
- Posted March 19, 2024
The Benefits of RNA Testing for Neurological Disorders
Introduction Clinical genetic testing is a powerful diagnostic tool for neurological disorders. The utility of genetic testing can be diminished by the large number of variants of uncertain significance (VUS). Variant classification for neurological disorders has additional challenges because clinical evidence is often limited. The biggest limitation…
- 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 for…
- By Marcy Richardson, PhD
- Posted December 19, 2023
The Path to Clinical Relevance: What a Study on RAD51C Reveals about Resolving VUS
Everyone has genetic variation….and lots of it. It’s part of what makes us each unique. Genetic variation is defined by differences in our own genome and a reference genome. (The fact that there is only one reference genome selected to compare to all of our collective, rich, human diversity is a topic for another post.) Another source of genetic…
- By Stephany Tandy-Connor, MS
- Posted March 28, 2018
Genetic testing at home or from the doctor’s office – same difference?
There has been a lot of talk about Direct-To-Consumer (DTC) genetic testing and the caveats that come along with that type of testing, but what does it all really mean? What is the actual difference between a DTC genetic test and a genetic test ordered by a medical professional through a clinical laboratory? There are several things that make…
- By Stephany Tandy-Connor, MS
- Posted March 22, 2018
False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care
The explosion of direct-to-consumer genetic testing over the last few years has created a ton of buzz, beyond just ancestry, health traits and wine preferences. Many of these DTC labs also release raw data to the consumer; this often leaves many individuals interested in what these findings mean and their potential impact on their healthcare management.…
- 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 May 18, 2017
How are Direct-to-Consumer and Medical-Grade Genetic Tests Different?
As we find more ways to take charge of our health, genetic testing is becoming something that many consider and, in fact, has become easier to access than ever before. An appointment with a doctor or genetic counselor is no longer required to access genetic testing – for some types of genetic tests, it’s now possible to order a test kit online,…
- By Deepti Babu, MS, CGC
- Posted October 11, 2016
New Research Confirms Sanger Sequencing is Critical for Accurate Genetic Testing
As anyone in the genetics field knows, things change quickly. New genes are being discovered, new technology is being adopted and new tests are being offered daily. It’s hard to keep up. But last Thursday, a new Ambry Genetics scientific publication in The Journal of Molecular Diagnostics justified Ambry’s ongoing commitment to something important…