Clinical Availability of Functional Assays: Identifying Assays at Risk and Pathways to Ensure Appropriate Patient Care
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Presenting Author - Patricia L. Hall, PhD; Co-Author - Dawn S. Peck, CGC, LGC, MSGC; Co-Author - Gisele Pino, MSGC; Co-Author - April Studinski, MS; Co-Author - Amy White, MS CGC; Co-Author - Dimitar K. Gavrilov, MD, PhD; Co-Author - Dietrich Matern, MD, PhD, FACMG; Co-Author - Devin Oglesbee, PhD; Co-Author - Matthew Schultz, PhD; Co-Author - Silvia Tortorelli, MD,PhD;
Meta Tag
Biochemical genetics
Delineation of Diseases
Metabolic Disorder
Co-Author Dawn S. Peck, CGC, LGC, MSGC
Co-Author Gisele Pino, MSGC
Co-Author April Studinski, MS
Co-Author Amy White, MS CGC
Co-Author Dimitar K. Gavrilov, MD, PhD
Co-Author Dietrich Matern, MD, PhD, FACMG
Co-Author Devin Oglesbee, PhD
Co-Author Matthew Schultz, PhD
Co-Author Silvia Tortorelli, MD,PhD
Presenting Author Patricia L. Hall, PhD
Keywords
tissue-based functional assays
clinical biochemical genetics laboratories
cholesterol esterification testing
Niemann-Pick C disease
Mayo Clinic
plasma oxysterol analysis
conclusive diagnoses
patient care
alternative pathways
diagnosis and monitoring

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