Overview
Explore the complexities of hereditary transthyretin (hATTR) amyloidosis in this comprehensive 56-minute webinar presented by Ambry Genetics. Learn to differentiate between various forms of amyloidosis, master the associated nomenclature, and understand the genotype-phenotype correlations in TTR amyloidosis. Gain insights into the clinical presentations, diagnostic challenges, and genetic counseling considerations for patients and families affected by this condition. Delve into topics such as epidemiology, diagnostic pathways, and the systemic nature of hereditary ATTR amyloidosis. Benefit from the expertise of renowned presenters Dr. Morie Gertz and Katie Agre, MS, LCGC, as they guide you through case examples, family history considerations, and the benefits of pre-symptomatic testing. Enhance your understanding of this complex disorder and improve your ability to diagnose, manage, and counsel patients with hATTR amyloidosis.
Syllabus
Intro
Case Example
What is amyloidosis?
Hereditary vs. Wildtype TTR Amyloidosis
Naming discrepancy
Genotype-phenotype correlations
Family History Questions
Genetic testing and counseling for proband
Benefits of Pre-symptomatic Testing
Epidemiology
Diagnosis of ATTR Amyloidosis
Pathway to Diagnosis
Hereditary ATTR Amyloidosis is a Systemic, Multi-organ Disease
Symptoms and diagnostic tests
Taught by
Ambry Genetics