Ambry Genetics Courses

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.

• YouTube
• 41 minutes
• On-Demand
• Free Video

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.

• YouTube
• 42 minutes
• On-Demand
• Free Video

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.

• YouTube
• 41 minutes
• On-Demand
• Free Video

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.

• YouTube
• 55 minutes
• On-Demand
• Free Video

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.

• YouTube
• 30 minutes
• On-Demand
• Free Video

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.

• YouTube
• 47 minutes
• On-Demand
• Free Video

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.

• YouTube
• 1 hour 7 minutes
• On-Demand
• Free Video

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.

• YouTube
• 57 minutes
• On-Demand
• Free Video

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.

• YouTube
• 54 minutes
• On-Demand
• Free Video

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.

• YouTube
• 56 minutes
• On-Demand
• Free Video

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.

• YouTube
• 1 hour 17 minutes
• On-Demand
• Free Video

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.

• YouTube
• 1 hour 2 minutes
• On-Demand
• Free Video

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.

• YouTube
• 1 hour 23 minutes
• On-Demand
• Free Video

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.

• YouTube
• 58 minutes
• On-Demand
• Free Video

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.

• YouTube
• 41 minutes
• On-Demand
• Free Video