Laboratory genetics and genomics

829 - Development of a GBA Sanger Sequencing Assay to Diagnose Gaucher Disease

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827 - Impact of Clinician Review and Collaboration on Variant Interpretation for Inherited Primary Immunodeficiencies

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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
845 - Practices and Attitudes Toward Returning Individual Genomic Research Results to Low-Resource Participants
847 - Putting into Practice What They Preach: Collecting and Implementing Feedback Through Multilayered Stakeholder Engagement
849 - “Well for five dollars, we'll see what it says”: A Mixed-Methods Study on Consumer Use of Third-Party Genetic Interpretation Tools
851 - Ethical Challenges of Genetic Testing for Obesity: A Case Report and Literature Review