- By Elizabeth Chao, MD, FACMG
- Posted October 10, 2024
Pioneering New Research to Support Rare Disease Patients and Families
Unlocking the mysteries of the genome is our life’s work. Since the launch of our first clinical genomic test for identifying the genetic cause of rare diseases, we’ve sought ways to leverage our technology and expertise to support clinicians and the patients and families they serve. As genomic technologies improve, we gain new tools that…
- By Jennifer Herrera-Mullar, MGC, CGC, DMA
- Posted July 2, 2024
The Evolving Landscape of Gene-Disease Validity Curation and Its Impact on Clinical Utility
In the ever-evolving field of genetics, understanding the relationship between genes and diseases is crucial for improving patient care. Gene-Disease Validity (GDV) scoring plays a pivotal role in this process, helping genetic counselors and healthcare professionals assess genetic risks and enhance medical management. As GDV scoring techniques…
- By Deepti Babu, MS, CGC
- Posted April 10, 2017
Can Patients with Hematological Cancer Have Genetic Testing?
The short answer is: Genetic testing is possible, but depends on other factors. The question of whether genetic testing is possible for patients with a history of hematological cancer comes up often in the clinical setting and in the testing laboratory. This makes sense since genetic testing is performed on DNA isolated from white blood cells…
- 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…
- By Jackie Connor
- Posted November 2, 2016
Watch: What Makes Sanger Confirmation Essential? Find out from Ambry's CEO
In the months following the National Society of Genetic Counselor’s (NSGC) annual conference, Ambry’s paper on Sanger confirmation has made headlines throughout the genetic testing industry and has upended conventional thinking regarding Next generation sequencing. What started as a Sponsored Evening Session presentation at NSGC, has…
- 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…