Genetic Testing in Adult Neurology Patients
Explore the utility and diagnostic yield of genetic testing in adult neurology patients, reviewing recent research findings and implications for clinical practice.
Integrating Functional Studies into Variant Interpretation
Explore DNA and RNA functional data integration in ACMG classification, evaluating assay quality and weighting in variant interpretation, with insights from recent ClinGen SVI recommendations.
Opportunistic Screening for Medically Actionable Secondary Genomic Findings
Explore communication and outcomes of medically actionable secondary genomic findings, identifying research gaps and opportunities for genetic counselors to enhance precision medicine approaches.
Genetic Testing Results on Clinical Management for Lipid Patients
Explore genetic testing's impact on lipid patient management, focusing on Familial Hypercholesterolemia and Familial Chylomicronemia Syndrome. Learn from case studies and expert insights.
Clinical Validity Assessment of Gene-Disease Associations for Variant Classification
Explore standardized assessment of gene-disease associations and its role in determining variant pathogenicity for clinical reporting, aiding in diagnosis and management of genetic conditions.
Inherited Arrhythmias - Understanding Channelopathies and Sudden Cardiac Events
Explore potentially fatal but preventable causes of sudden cardiac arrest, focusing on channelopathies like LQTS, CPVT, BrS, and SCA/D in this informative webinar on inherited arrhythmias.
Familial Thoracic Aortic Aneurysms and Dissections - Genetic Testing and Patient Care
Explore hereditary cardiovascular diseases, focusing on thoracic aortic aneurysms and dissections. Learn how genetic testing enhances patient care for conditions like Loeys-Dietz syndrome and vascular Ehlers-Danlos syndrome.
Reanalysis and Reclassification of Diagnostic Exome Sequencing
Explore the evolving landscape of diagnostic exome sequencing, focusing on reclassification reasons, rates, and how new gene-disease discoveries enhance diagnostic success in Mendelian diseases.
Living with Familial Hemiplegic Migraine with Paralysis - The Patient's Experience
Explore familial hemiplegic migraine through a patient's perspective, understanding its genetic basis, symptoms, and management strategies for a healthier life despite challenges.
Interpreting Genetic Testing Results for Non-Genetics Providers
Guidance for non-genetics providers on interpreting genetic test results, considering patient history, and utilizing resources for result interpretation and patient care.
Applying Somatic Germline Testing for Lynch Syndrome
Explore paired tumor/germline testing for Lynch syndrome, its benefits, and comparison to other strategies. Learn to navigate discordant results and understand current literature on somatic genetic testing.
Ambry's Translational Genomics Lab: Understanding Variants of Uncertain Significance
Overview of Ambry's Translational Genomics Lab services for assessing variants of uncertain significance, focusing on RNA protocol for splicing variants to improve diagnostic yield and guide patient treatment.
Testing Your Patient - DTC vs Single Gene vs Panel vs Exome
Explore differences between direct-to-consumer and clinical genetic testing, learn when each is appropriate, and gain insights on advising patients about genetic test results.
Exome Testing - An Evidence-Based Approach to Accurate Diagnosis
Explore Ambry's evidence-based approach to clinical exome sequencing, including their proprietary scoring system for linking genes to diseases, leading to higher diagnostic yields and improved patient care.
The Truth About Next Generation Sequencing (NGS)
Explore Ambry's findings on the necessity of Sanger confirmation alongside NGS for optimal genetic testing accuracy, and learn about potential consequences of less rigorous procedures.
Cardiovascular Genetic Testing Practices Around the World - Inherited Arrhythmias Series, Part 3
Explore global approaches to cardiovascular genetic testing for inherited arrhythmias, comparing diagnostic processes in Canada, Europe, and the US with insights from experts.
The Pregnancy Journey with Inherited Arrhythmia - Inherited Arrhythmias Series, Part 1
Comprehensive exploration of medical, physiological, and emotional aspects of maternal and fetal care during pregnancies affected by Long QT syndrome, featuring insights from doctors, genetic counselors, and patient experiences.
Genetic Testing for Neurodevelopmental Disorders
Explore genetic testing methods for neurodevelopmental disorders, including microarray, single syndrome, multi-gene panels, and diagnostic exome sequencing, to aid in diagnosing conditions like autism and epilepsy.
Clinical Diagnostic Exome Sequencing - Addressing Clinical Utility and Cost-Effectiveness
Explore clinical diagnostic exome sequencing's utility and cost-effectiveness with experts discussing its role in the diagnostic process and impact on patient care.
Genetic Testing in Hereditary Hemorrhagic Telangiectasia
Explore genetic testing for Hereditary Hemorrhagic Telangiectasia with expert Katie Wusik. Learn about clinical diagnosis, recent research, and the impact on patients and families.
Evaluation and Genetic Testing for Sudden Death
Comprehensive overview of sudden death evaluation, covering team roles, autopsy tools, sample types, and potential causes. Equips healthcare professionals with essential knowledge for case investigation.