When Exome Sequencing is the Answer
Ask any parent whose child has a serious health condition or birth defect “What is the value of a diagnosis?” and they will tell you that an answer is worth everything. When a child presents with an undiagnosed condition, they may undergo multiple genetic tests in search of an answer. When those tests come back […]
What is the APOE gene and how is it related to Alzheimer’s Disease?
There is currently no proven way to prevent or cure Alzheimer disease. Is there a role for genetic testing to predict risk?
Cystic Fibrosis – Pathway to a Cure
Did you know that although it can occur in any ethnic group, cystic fibrosis (CF) is the most common and severe inherited disease in Caucasians?
Epilepsy Awareness – Dispelling Myths
Epilepsy has many causes. For many, seizures are caused by a genetic change, called a mutation.
World Rare Disease Day
February 28, 2018, is World Rare Disease Day, a day that calls upon policy makers and the public to consider the daily impact that living with a rare disease has on patients and their families.
Pharmacogenomics
Did you know that 50% of patients are taking medications which do not work well for them or cause unwanted side effects? There are many reasons for differences in the way drugs work for different people, including a person’s height and weight, the presence of other health problems and individual genetic make-up. Additionally, interactions with […]
2017 National Society of Genetic Counselors
The 36th National Society of Genetic Counselors (NSGC) Annual Conference was held from September 13-16 in Columbus, Ohio and 17 members of the Quest Diagnostics’ Genetic Counselor (GC) Organization attended. The purpose of the conference is to showcase advancements in the genetic counseling profession, as well as educate attendees and build community. The theme for […]
Spina Bifida Awareness Month: From Screening to Surgery
In 1972, a researcher in the United Kingdom, David Brock, noticed that women who give birth to babies with an open neural tube defect (ONTD) or spina bifida had a significantly elevated alpha fetoprotein (AFP) levels in their amniotic fluid. At the time, the United Kingdom had one of the highest birth rates of ONTDs […]