- 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…