Laboratory genetics and genomics

815 - A 15Mb terminal deletion in a female with relatively normal clinical presentation further highlights phenotypic variability of 4q deletion syndrome

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804 - Sex Chromosome Abnormalities Identified among 3240 Participants in the Colorado Center for Personalized Medicine Biobank

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824 - Clinical Utility of Overlapping Gene Lists for Identifying Candidate Genes for Neurodevelopmental Disorders
825 - Molecular Diagnosis in Patients with Hereditary Spastic Paraplegia using Targeted NGS panels
827 - Impact of Clinician Review and Collaboration on Variant Interpretation for Inherited Primary Immunodeficiencies
829 - Development of a GBA Sanger Sequencing Assay to Diagnose Gaucher Disease
830 - Definitive Diagnosis of Gray Platelet Syndrome (GPS) Established by Identification of Novel NBEAL2 Pathogenic Variants Highlights the Utility of Next-generation Sequencing (NGS) for Diagnosing Rare Platelet Disorders
834 - ClinVar Makes Updates Easy: A New Online Form to Update a Single SCV
835 - Is karyotyping still useful in the pediatric population? Experience of a certified Genetic Laboratory in Colombia, Latin America
841 - Complex Anomalies on Fetal Imaging and Pregnancy Outcome Following Ring Chromosome 18 Finding Initially Identified by Noninvasive Prenatal Screening
843 - Policies on Return of Research-Related Genetic Test Results Differentially Impact Willingness to Participate by Race/Ethnicity
844 - Learn Medical Genetics: Educating the World About Genetic Disorders Via Free, Online Videos