Decoding the Genetic Test Report: The Basics

@ 11:30 am

Presenters: Sara Zoran, MS, CGC and James Weber, PhD Session Objectives: Define basic genetic terms and concepts as they relate to a genetic test report Navigate the major elements of a genetic test report. Describe variant …

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Clinical Information Required by Testing Labs

@ 12:30 pm

Presenter: James Weber, PhD Learning Objectives: Discuss evidence supporting the increase in ES/GS diagnostic yield with provision of thorough phenotypic information using HPO terms and parental samples to test labs Discuss challenges and solutions to implementing …

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Dysmorphology and Human Phenotype Ontology (HPO) in the NICU Setting

@ 11:30 am

Presenters: Carolyn Scoptur, APNP and Jennifer Stengrevics, PAC Learning Objectives: Describe a basic dysmorphology exam Describe phenotypic abnormalities using standardized HPO vocabulary Identify clinician resources for dysmorphology exams and HPO terms Discuss challenges and solutions to …

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