Jane Juusola, PhD, FACMG
GeneDx Director, Clinical Genomics Department
Patricia Celestino Soper
GeneDx Assistant Director, Rare Disorders Department
Chronic Kidney Disease affects approximately 1 in 10 people worldwide, and nearly 25% of affected patients report familial recurrence. This webinar will discuss hereditary kidney disorders, genetic testing, and review GeneDx results from nearly 300 polycystic kidney disease tests. Cases will be presented to illustrate uncommon molecular diagnoses.
Jane Juusola, PhD, FACMG
GeneDx Director, Clinical Genomics Department
Rapid exome and genome sequencing provide a quicker turnaround when timing is critical to possibly direct or alter medical management, such as for NICU and PICU patients. This webinar discusses GeneDx’s experience with exome sequencing over 200,000 samples with a focus on outcomes from our rapid exome sequencing options.
Francisca Millan Zamora, MD, FACMG
GeneDx Associate Director, Neurogenetics Department
The cause of cerebral palsy (CP) has historically been attributed to complications of the prenatal course and birth; particularly with birth asphyxia. However, emerging evidence suggests that a proportion of CP has a genetic etiology. This webinar reviews recent literature supporting the use of genetic testing in patients with CP, highlights results of exome sequencing for a cohort of individuals with CP, considers the implications of establishing a genetic diagnosis and discusses recurrence risk for families.
This webinar focuses on describing legal and compliance considerations with billing and genetic test ordering. We also identify and discuss clinical scenarios that present legal and ethical challenges from a HIPAA and compliance perspective.
Xpanded HereditaryCancer: The Next Phase of Cancer Genetic Testing
Xpanded HereditaryCancer combines the flexibility of exome technology with an extensive set of genes to bridge the gap between standard next-generation sequencing (NGS) panels and exome sequencing (ES).This presentation reviews the curation process used to develop the gene list and summarizes the unique approach to analysis and reporting. We discuss when to consider ordering and which patients may benefit from Xpanded HereditaryCancer.
Outcome and Options: Factors Influencing Epilepsy Genetic Testing Results and Follow-up Testing
This talk provides an overview of available genetic tests for epilepsy and discusses testing options following a non-diagnostic clinical epilepsy gene panel. The factors that affect the outcome of epilepsy genetic testing are reviewed, including the impact of age-of-onset, seizure type, associated phenotypes and trio-based testing including parental samples. Case examples of individuals who had a trio-based epilepsy panel are used to highlight the types of patients most likely to benefit from epilepsy genetic testing.
Detecting the Undetectable: Identification of SMN1-related SMA by Exome Analysis
This talk focuses on the identification of SMN1-related Spinal Muscular Atrophy via exome sequencing; reviewing the basic mechanisms of SMN1 defects, how we can detect them by NGS and why screening for this disorder by exome sequencing is beneficial. A cohort of individuals identified by exome sequencing is used to highlight the impact this diagnosis has on medical management and genotype-phenotype correlations of individuals with atypical disease presentation.
Working From Home: Is This the New Normal?
Are you transitioning or planning to transition your practice to telehealth? Are you looking for guidance on how to get started or tips to improve the experience for both you and your patients? This webinar discusses how to set up your home office, maintain HIPAA compliance and maximize patient satisfaction. Additionally, learn how GeneDx is able to support telemedicine so you can continue ordering necessary genetic testing through this pandemic, ensuring your patients receive the best care now and into the future.
