What’s New

NSGC 2016 in Seattle, WA: Thank you and #GCFeudbyGeneDx Winner!

Thank you for learning and having fun with us at NSGC’s 35th AEC in Seattle!

Thank you for attending our lunch session and our annual GeneDx happy hour at the Seattle Aquarium! We had a great time meeting you all and we hope you had a wonderful time as well! We created a Facebook album from our happy hour here; be sure to tag yourself! Thank you for your ongoing support of GeneDx.

We hope you were able to add a Seattle Zee to your zebra collection! We look forward to seeing you again next year at NSGC 2017 in Columbus, Ohio!

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The Newest WES Testing Option at GeneDx

Introducing XomeDxPrenatal, an expedited whole exome sequencing (WES) test for ongoing pregnancies with abnormal fetal ultrasound findings. Click here to learn more!

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What’s New in Cardiology

  Familial Hypercholesterolemia (FH) Panel Sequencing and deletion/duplication analysis of 4 genes Genes: APOB, LDLR, LDLRAP1, PCSK9 Turnaround time of 4 weeks Heritable Disorders of Connective Tissue Panel Sequencing and deletion/duplication analysis of 49 genes  Genes: ACTA2, ADAMTS2, ALDH18A1, ATP6V0A2, ATP7A, B3GALT61, B4GALT7, CBS, CHST14, COL11A1,COL11A2, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL9A1, COL9A2, DSE, EFEMP2, […]

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GeneDx at NSGC 2016 | Seattle, WA | September 28 – October 1, 2016

Have Fun with Us! Stop by booth #803 and represent your GC Training Program in our #GCFeudbyGeneDx! New this year, we will be hosting a GC trivia competition during NSGC’s 35th AEC, #GCFeudbyGeneDx. Created by genetic counselors for genetic counselors, players will be able to test their genetics knowledge while playing on behalf of their […]

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Neurology Test Updates

Expanded Microcephaly Panel  A comprehensive, dynamic list of 800+ genes (updated regularly) Includes recently identified and emerging genetic causes of microcephaly Proband and parents are sequenced and analyzed concurrently (trio), allowing for more accurate variant interpretation Facilitates identification and interpretation of pathogenic variants based on inheritance, especially de novo variants Turnaround time of 6 weeks […]

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Hereditary Cancer Test Offerings Update

Updated Panels Based on National Guidelines, Literature and GeneDx Data  STK11 STK11 has been removed from breast and ovarian panels Panels affected include the Breast/Ovarian Cancer Panel, the Breast Cancer High/Moderate Risk Panel, the Breast Cancer High Risk Panel, and the Breast Cancer High Risk and PALB2 BRIP1, RAD51C, and RAD51D BRIP1, RAD51C, and RAD51D have […]

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Select ACMG 2016 Posters Now Available! | April 13, 2016

This year at the ACMG, we presented 16 poster presentations. To read the selected four complete posters, click on the links below. Copy Number Variants in Cardiomyopathy-Associated Genes  Daniela Macaya, PhD, FACMG; Rebecca Latimer, MMSc, CGC; Gabriele Richard, MD, FACMG; Shelley Patrick, MS, CGC; Christian Antolik, PhD, FACMG Diagnostic Yield From Reanalysis of Whole Exome Sequencing Data Elizabeth […]

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Genetics in Medicine Publications

GeneDx has published two studies in Genetics in Medicine.  Congratulations to our GeneDx authors! To read more, please click on the links below: Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing Clinical Application of Whole Exome Sequencing Across Clinical Indications

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New ACMG Guidelines

Recently the American College of Medical Genetics published new guidelines for the interpretation of genetic sequence variants (Richards et al. (2015) Genetics in Medicine: Official Journal of the American College Of Medical Genetics: (PMID: 25741868). The process of variant interpretation is dynamic and challenging. The purpose of the guidelines is to standardize the terminology used […]

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