@ 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 …
@ 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 …
@ 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 …
@ 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 …
@ 11:30 am
Presenter: April Hall, PhD, MS, CGC Learning Objectives: Describe evidence regarding diagnostic yield of ES/GS in critically ill neonates (CIN) Describe evidence for clinical utility of ES/GS in CIN Describe literature supporting the cost efficiency …
@ 12:30 pm
Presenter: Jess Scott Schwoerer, MD Learning Objectives: Describe clinical presentations in critically ill neonates (CIN) that indicate ES/GS testing Identify clinical presentations in CIN that indicate other genetic testing Discuss challenges and solutions to implementing …