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 Genetic Counseling Training Program. The winning program will be recognized by GeneDx and earn bragging rights for the year to come. Proudly represent your GC program, and sport your “I played” sticker throughout the conference!

Annual GeneDx Happy Hour – Register here

Seattle Aquarium
Thursday, September 29, 2016 at 8:00 pm
Pier 59 on the Elliott Bay Waterfront
1483 Alaskan Way, Seattle, WA 98101

Learn with Us!

GeneDx Sponsored Lunch Session

Sequence in Seattle: Updates on Variant Classification and Prenatal WES
Friday, September 30, 2016 at 12:45pm / Ballroom 6E
Speakers: Elizabeth Butler, MS, CGC; Carin Yates, MS, CGC; Michelle Cahr, MS, CGC (Weill-Cornell Medicine)

Pre-Conference Symposium Presentation

A03: Oh the Places You’ll Go! Genetic Counseling as a Fast Pass to Personal and Professional Growth
Wednesday, September 28, 2016 at 8:00am / Room 604
Session Includes Two GeneDx Speakers

GeneDx Poster Presentations

Poster #A-67 Adults Are Not Big Kids: Adults Undergoing Whole Exome Sequencing Represent a Unique Clinical Population
Poster #A-121 CDH1 in the Era of Multi-Gene Panel Testing: Discrepancies Between the Literature and Observed Phenotypes for Missense Variant Carriers
Poster #A-151 Reportable Variants in Genes Less Commonly Associated with Cardiomyopathies
Poster #A-316 Further Clinical Delineation of PACS1-Related Syndrome: A Recurrent De Novo Pathogenic Variant
Poster #B-158 Thinking Outside the A-band: Segregation of TTN Truncating Variants
Poster #B-260 The Utility of Multi-Gene Sequencing in the Diagnosis of Congenital Myasthenia and Related Neuromuscular Disorders
Poster #B-281 WES Testing in Families with High Kinship Coefficients: WES Trio is More Effective than Focused Regions of Homozygosity Analysis
Poster #B-293 Exome Sequencing in Fetuses with Abnormal Ultrasound Findings Leading to Demise or Termination
Poster #B-296 Efficacy of Custom Targeted Gene Lists as Compared to Whole Exome Sequencing
Poster #B-320 Trio-Based Whole Exome Sequencing (WES): An Effective Diagnostic Tool for Patients with Microcephaly
Poster #B-332 USH2A Copy Number Variants (CNVs) in Patients with Heterozygous USH2A Sequence Variants
Poster #B-335 Novel Hypomorphic RAG2 Variants in an Adult with Progressive Muscle Weakness and CVID
Poster #B-377 One Family, Two Distinct Brain Malformation Disorders with Different Modes of Inheritance
Poster #C-60 Characterizing the Clinical Cancer Presentation of Individuals with Pathogenic Variants in FANCC
Poster #C-63 Mosaic Variants in Hereditary Cancer Genes Identified by Next-Generation Sequencing Panels
Poster #C-93 BRCA1/2 Breast and Ovarian Cancer Risks by Variant Location
Poster #C-102 Confirmation of Tumor Biomarker Results in the Germline
Poster #C-126 Fanconi Anemia Type Solid Tumors in FA Heterozygotes Identified via Inherited Cancer Gene Testing
Poster #C-246 Genetic Testing for 46, XY Disorders of Sex Development in a Prenatal Setting
Poster #C-342 High Frequency of Mosaicism in Genes Associated with Epilepsy and Neurodevelopmental Disorders
Poster #C-372 What is a Laboratory Genetic Counselor? The GeneDx Experience
Poster #C-375 A Recurrent GABRG2 Variant Associated with Early-Onset Seizures, Intellectual Disability, Motor and Speech Delays, and Hypotonia

Group A Posters: Wednesday, September 28, 6:15 pm – 7:30 pm
Group B Posters: Thursday, September 29, 5:45 pm – 7:00 pm
Group C Posters: Friday, September 30, 11:30 am – 12:45 pm