#NSGC17

GeneDx at NSGC 2017| Columbus, OH | September 13 – September 16, 2017

Stop by the GeneDx booth (#314) to learn more about our newest test offerings and do not forget to grab our newest Zebra!

Join Us For Our:

GeneDx Sponsored Lunch Session

Touchdown, NGS! A Champion in Variant Detection
Friday, September 15, 2017 at 12:00 pm | North Short Ballroom A | Level 2
Speakers: Kyle Retterer, Jessica Mester, Audra Bettinelli

Pre-Conference Symposium Presentations

Addressing Efficiency of the Genetics Workforce: Hiring Genetic Counseling Assistants, Advocating for Genetic Counselor Positions and Implementing Alternate Service Delivery Models
Wednesday, September 13, 2017 from 8:00 am – 2:00 pm | Room B130-132
Session Includes Three GeneDx Speakers

Navigating Variant Interpretation in Cardiovascular Genetics: Current Challenges, Gene-Specific Considerations and Efforts Toward Standardization
Wednesday, September 13, 2017 from 8:00 am – 2:00 pm | Room C150-151
Session Includes Two GeneDx Speakers

GeneDx Platform Presentations

Trio-Based Autism/Intellectual Disability Panel Reveals Significant Recurrence Risk in Over 20% of Positive Cases
Friday, September 15, 2017 at 3:00 pm
Authors: Dana Stolar, Houda H. Elloumi, Danielle Bishay, Anita Shanmugham, Fanggeng Zou, Julie Scuffins, Dee McKnight, Tracy Brandt

Pathogenic and Likely Pathogenic Variants Identified on a Multi-Gene Renal Cancer Panel
Friday, September 15, 2017 at 4:00 pm
Authors: Ravin Williams, Kristen Grill, Maegan Roberts, Jessica Mester, Corrine Fillman, Rachel Klein, Ying Wang, Kathleen Hruska

Are Heterozygous MUTYH Carriers at Increased Risk for Cancer?
Saturday, September 16, 2017 at 12:15pm
Authors: Amanda Thompson, Lisa Susswein, Kevin Arvai, Rebecca Torene, Maegan Roberts, Megan Marshall, Rachel Klein, Kathleen Hruska, Zhixiong Xu

Annual GeneDx Happy Hour – Register here

Bar Louie
Featuring Special Guests: The Dueling Hobbits
Thursday, September 14, 2017 at 8:00 pm
504 North Park Street
Columbus, OH 43215

GeneDx Poster Presentations

Poster #A-55 The Impact of NCCN Management Guidelines on APC I1307K Carriers Unaffected with Colorectal Cancer
Poster #A-61 Two-Thirds of PTEN Pathogenic/Likely Pathogenic Variants Occur De Novo in a Large Clinical Cohort
Poster #A-133 Further Molecular and Phenotypic Characterization of CAMTA1-Related Neurology Disorders
Poster #A-187 For Some, Bigger is Not Always Better: The Benefits of a Smaller Gene Panel for Charcot-Marie-Tooth
Poster #A-232 Heterozygous De Novo GNAI1 Gene Variants are Associated with Epileptic Encephalopathy
Poster #A-234 De Novo Variants at Residue 480 in FAR1 are Associated with an Autosomal Dominant Early-Onset Neurological Disorder with Overlapping Yet Differing Features Compared to the Recessive FAR1 Disorder
Poster #B-56 Spectrum of Pathogenic Variants Identified on a Hereditary Paraganglioma/ Pheochromocytoma Panel
Poster #B-92 Revisiting the Role of Inherited Variants in Non-Epithelial and Low Malignant Potential Ovarian Tumors
Poster #B-155 ACMG Secondary Findings Preferences in Clinical Exome Sequencing
Poster #B-188 Early Detection of Atypical Rett Syndrome through Diagnostic Testing Using Multi-Gene Epilepsy Panels
Poster #B-197 Novel De Novo TAOK1 Variants Associated with a Neurodevelopmental Phenotype, Macrocephaly, and Joint Hypermobility
Poster #B-215 ATM Pathogenic/Likely Pathogenic Variants in Patients with Failed SCID Newborn Screening
Poster #B-227 Riboflavin Transporter Deficiency with Gross Motor Delays and Regression in a Child with Response to Riboflavin Treatment
Poster #B-236 Trio-Based Exome Sequencing Identifies De Novo ARID4A Variants as a Cause of Neurodevelopmental Disorders
Poster #C-72 Prevalence of Breast Cancer in Individuals with ATM Missense or Loss-of-Function Variants
Poster #C-87 Panel Testing in Men with Prostate Cancer
Poster #C-102 Yield and Characterization of Multi-Gene Hereditary Cancer Testing in Pediatric Patients
Poster #C-138 Advances in Molecular Therapies for Duchenne Muscular Dystrophy: Who Might Benefit From Them?
Poster #C-225 A New Candidate Gene for a Syndromic Neurodevelopmental Disorder: CYFIP2

Group A Posters: Wednesday, September 13 | 5:15 pm – 6:30 pm
Group B Posters: Thursday, September 14 | 5:45 pm – 7:00 pm
Group C Posters: Friday, September 15 | 1:15 pm – 2:30 pm