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ACMG 2017 | Phoenix, AZ | March 21-25, 2017 – Booth #401


GeneDx Speaker Presentations

#21: Whole Exome Sequencing in 129 Fetuses with Abnormal Ultrasound Findings
Thursday, March 23, 2017 at 8:00 am | North Ballroom D

Erin Ryan, MS, CGC

#25: Molecular Diagnostic Testing Reveals Mosaicism for 1.7% of Pathogenic/Likely Pathogenic Variants in 157 Disease Genes
Thursday, March 23, 2017 at 9:00 am | North Ballroom D
Dianalee McKnight, PhD, FACMG

#38: Diagnostic Utility of Whole Exome Sequencing for Disorders of the Immune System
Friday, March 24, 2017 at 4:00 pm | North Ballroom A

Rashmi Chikarmane, MSc, CGC

#47: Exome Sequencing Provides a Broad Evaluation and High Diagnostic Rate for Ataxia-Related Disorders
Friday, March 24, 2017 at 4:15 pm | North Ballroom D

Sujatha Sastry, MS, CGC


Annual GeneDx Happy Hour at ACMG 2017

GeneDx will be hosting a happy hour at ACMG 2017. To learn more and register, visit

GeneDx Poster Presentations

Poster #122: Pathogenic/Likely Pathogenic Variants Detected in Gastric Cancer Patients

Poster #132: SMARCA4 Variants in Families with Small Cell Carcinoma of the Ovary, Hypercalcemic Type (SCCOHT)

Poster #147: Evolving Indications for MUTYH Testing in Hereditary Cancer

Poster #163: Frequency of Endometrial and Ovarian Cancer in CHEK2 Carriers

Poster #170: Pathogenic Variants Identified in Inherited Cancer Genes in Patients with CHRPE

Poster #363: Heterozygous UBA2 Variants are Associated with Variable Aplasia Cutis Congenita, Limb, Genital, Growth and Developmental Abnormalities, Features of 19q13.11 Microdeletions

Poster #437: Finding Multi-Gene CNVs by Targeted Testing for Gene Deletions or Duplications: Strategies for Dealing with Unexpected Results

Poster #585: KCNB1-Related Seizure Disorders: Identification of the First Truncating Pathogenic Variants

Poster #587: Value of Panel Testing for the Molecular Diagnosis of Inborn Errors of Metabolism

Poster #637:The Phenotypic Spectrum of the HUWE1 and MED12 Genes

Poster #647: Impact of Recent Publications on Whole Exome Sequencing Outcome

Poster #651: Genetic Diagnosis of Autism Spectrum Disorder and Intellectual Disability: An Alternative to WES

Poster #668: Trio-Based Whole Exome Sequencing (WES): An Effective Diagnostic Tool for Patients with Microcephaly

Poster #675: The Power of Whole Exome Sequencing to Broaden Genotype: Phenotype Correlations

Odd Numbered Posters: Thursday, March 23, 2017 from 10:00 am – 11:30 am
Even Numbered Posters: Friday, March 24, 2017 from 10:30 am – 12: 00pm

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