Investigating the Efficacy of Targeted NGS Panels with Rapid TAT for Pediatric Patients with Narrow Differential Diagnoses
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Presenting Author - Andy Drackley, MS, CGC; Co-Author - Pamela A. Rathbun; Co-Author - Alexander Ing, MS, CGC; Co-Author - Alissa Wlodaver, PhD; Co-Author - Joshua Baker, DO, FAAP, FACMG; Co-Author - Rachel E. Hickey, MS, CGC; Co-Author - Merlene Peter, MMSc, CGC; Co-Author - Anne M. McRae, MSGC, CGC, MS; Co-Author - Sarah Jurgensmeyer, MS, CGC; Co-Author - Kai Lee Yap, PhD; Co-Author - Carlos Prada, MD;
Meta Tag
Biochemical genetics
Clinical History
Dysmorphology
Genetic Testing
Metabolic Disorder
Methodology
NextGen Sequencing
Psychosocial Counseling Issues
Co-Author Pamela A. Rathbun
Co-Author Alexander Ing, MS, CGC
Co-Author Alissa Wlodaver, PhD
Co-Author Joshua Baker, DO, FAAP, FACMG
Co-Author Rachel E. Hickey, MS, CGC
Co-Author Merlene Peter, MMSc, CGC
Co-Author Anne M. McRae, MSGC, CGC, MS
Co-Author Sarah Jurgensmeyer, MS, CGC
Co-Author Kai Lee Yap, PhD
Co-Author Carlos Prada, MD
Presenting Author Andy Drackley, MS, CGC
Keywords
targeted next-generation sequencing
rapid turnaround time
pediatric patients
narrow differential diagnoses
genetic diagnoses
in-patient setting
whole exome sequencing
whole genome sequencing
secondary findings
incidental findings

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