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Impact of the updated NCCN guidelines

Genetics is gaining more attention with each revision of the NCCN guidelines! The National Comprehensive Cancer Network (NCCN) guidelines are evidence based, peer-reviewed, practice guidelines geared towards healthcare providers managing patients with a diagnosis or increased risk of developing cancer. This year, changes were made in the areas of breast cancer risk management, Lynch syndrome, […]

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Reporting Secondary Findings with Exome Sequencing

Whole exome sequencing (WES) and whole genome sequencing (WGS) are powerful diagnostic tests that may also identify changes in DNA that are unrelated to the reason for testing. This differs from most genetic testing and has not been without controversy. At GeneDx and in the published literature, most patients undergoing WES are children with rare […]

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ACMG Conference Highlights (2015)

I left the ACMG conference this year feeling refreshed by the Utah sunshine and excited about where genetics is headed.   What made me so happy? Well, there are the obvious things like seeing friends, giving away zebras and visiting the 20+ posters where geneticists and genetic counselors presented GeneDx’s data.  But other than that, […]

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March is National Colon Cancer Awareness Month (March 20, 2015)

Approximately 5%, 1 in 20, people will develop colorectal cancer during their lifetime (National Cancer Institute SEER data). Although colorectal cancer is one of the most treatable forms of cancer if it is detected early, the Colon Cancer Alliance reports that 1 in 3 adults between the ages of 50 – 75 years do not […]

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Rare is Everywhere (February 28, 2015)

Rare Disease Day falls on the last day of February each year with the goal of raising awareness about what it’s like to live with a rare disorder and how collectively common they are (Did you know that one in ten people is affected with a rare disorder?). GeneDx was created to fill a gap […]

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October is Sudden Cardiac Arrest Awareness Month — Oct. 6, 2014

October is National Sudden Cardiac Arrest (SCA) Awareness Month. Sudden cardiac arrest is cessation of the heart’s beating and subsequent stopping of blood flow through the body. The sobering statistic is that 90% of SCA events result in death of the patient. The most important interventions for survival are CPR and use of an AED […]

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Comprehensive Cardiology Panel

GeneDx offers a comprehensive cardiomyopathy panel, which is our largest cardiology panel. Included in the panel is sequence analysis of 76 genes associated with cardiomyopathy and deletion/duplication testing for 60 of the genes. The comprehensive cardiomyopathy panel has all of the genes from our DCM/LVNC, HCM, and ARVC panels, plus genes associated with disorders that […]

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Cancer Susceptibility Testing: To panel or not to panel – That is the question! June 12, 2014

It’s an exciting time in the word of cancer genetics! Our ability to clarify cancer risk and therefore individualize surveillance and prevention plans is improving given growing options for inherited cancer susceptibility genetic testing. Last summer, shortly after the Supreme Court’s decision regarding gene patenting, GeneDx began to offer new options for germline genetic testing. […]

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May is Ichthyosis Awareness Month — May 29, 2014

May is not only a lovely spring month, but also Ichthyosis Awareness Month. “The ichthyoses are a family of genetic skin disorders characterized by dry, thickened, scaling skin. There are over twenty types that differ by their underlying genetic cause, outward appearance and/or mode of inheritance. Some are primarily limited to the skin, although the consequences of the […]

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NEW! Books We Recommend — May 19, 2014

Cheryl’s wonderful post about books with a genetics theme inspired me to share a few of my own favorites: Ian Brown’s Boy in the Moon and Bonnie J. Rough’s Carrier. Both authors reveal intensely personal stories with a frank exploration of their own very different experiences. Ian Brown, a journalist, writes beautifully about his son […]

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Exome Sequencing at GeneDx: 8 Things You Didn’t Know

We put out a lot of information about our clinical whole exome sequencing (WES or XomeDx) at GeneDx. Kyle Retterer wrote this post on why trios are better. We often talk about our Board-Certified Directors, geneticists, bioinformaticians and genetic counselors who work on XomeDx. In addition to educational resources on our website, we have case […]

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Books I Recommend — May 2, 2014

As a genetic counselor, I’ve always been fascinated by social and medical family histories and the deeply personal information we collect from patients. Two books that go deeper into the lives of what both authors call “extraordinary” children and their families are Wonder by RJ Palacio and Far from the Tree by Andrew Solomon. Wonder […]

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Happy DNA Day! — April 25, 2014

Happy DNA Day!  This important day is celebrated every year on April 25 to mark the anniversary of the completion of the Human Genome Project in April 2003 and to commemorate James Watson’s and Francis Crick’s 1953 discovery of the molecular structure of DNA. The focus of DNA Day has been on activities and education […]

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Why trios are better for exome sequencing — April 22, 2014

When ordering our XomeDx assay, GeneDx recommends sending samples from complete trios, typically an affected child and his or her parents, whenever possible. When receiving trios, GeneDx performs whole exome sequencing (WES) on all three samples. As shown in the chart below, having data for a complete trio significantly increases the odds of a definitive […]

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GeneDx Launches Expanded Marfan/TAAD panel — April 18, 2014

There is always so much going on at GeneDx that it’s sometimes hard to keep up! Just before the ACMG meeting, on March 24, we added four genes to our next generation sequencing panel for Marfan syndrome and thoracic aortic aneurysm and dissection (TAAD). This is something that a number of clinicians were asking us […]

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Heading Down to Nashville — March 24, 2014

The American College of Genetics and Genomics (ACMG) meeting starts March 25 (tomorrow!) at 12:30pm with two half-day Short Courses this week in Nashville. GeneDx co-founder, Sherri Bale, PhD, FACMG, is giving a talk called “The Zen of Variant Interpretation” in the cheekily-titled session “Labs are from Venus and Docs are from Mars: Interpretation and […]

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Opening Day — March 19, 2014

Hello and welcome to the official launch of the GeneDx Blog! Much of the content will focus on many of the rare and inherited disorders we test for here at GeneDx but it will also include new research from around the globe on both rare and common disease. We will have an incredible amount of […]

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A New Chapter

On August 16, Edge BioServ LLC, the Services Division of EdgeBio, entered into agreement to be acquired and become part of GeneDx (www.genedx.com), a division of BioReference Laboratories, Inc. (http://www.genomeweb.com/sequencing/bioreference-laboratories-acquire-edge-bioserv). GeneDx specializes in genetic testing for rare hereditary disorders. Their mission, and now ours, is to make clinical testing available to people with rare genetic […]

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