Raising Awareness of Fragile X Syndrome

Better Health

Fragile X syndrome, caused by an altered gene on the X chromosome, is inherited and there may be family characteristics that indicate if there is risk of carrying this altered gene.

Diagnosing the Most Vulnerable Patients: Genetic Testing for Critically Ill Newborns

Better Health

Quest Diagnostics’ new NewbornDx Advanced Sequencing test provides a targeted approach to testing in a turnaround time meant for the NICU.

Genetic Testing for Cancer Survivors

Better Health

It is important for cancer survivors to talk to their healthcare providers about genetic testing on a regular basis.

The History Behind a Good Pair of Genes – Why We Celebrate National DNA Day – April 25

Insights

It was meant to happen once, but the National Human Genome Research Institute commemorates it every year to showcase how genomics has transformed our world.

Recurrent Pregnancy Loss: Finding Hope

Insights

Diagnostic testing including chromosome analysis may be able to identify which causes of pregnancy loss are likely to recur.

Colon Cancer Awareness and Lynch Syndrome

Better Health

Lynch syndrome, also known as Hereditary Non-Polyposis Colorectal Cancer (HNPCC), is the most common cause of inherited colon cancer. Find out more.

When Exome Sequencing is the Answer

Better Health

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 […]

22q11.2 Deletion Syndrome: Awareness Can Make a Difference

Insights

Prenatal screening for the 22q11.2 deletion is now available by cell-free DNA screening, also known as noninvasive prenatal screening.