Interpreting Genetic Variation: Examples from X-linked Intellectual Disability

Elaine Lyon, PhD
Medical Director, Genetics Division
Co-Medical Director, Pharmacogenomics

Advances in sequencing and array technologies allow for the analysis of many inherited diseases, but clinical interpretation of these analytical findings can be challenging. Join Dr. Elaine Lyon as she discusses evaluating genetic variation, including sequence and gene/exonic level copy number variations, and describes unique situations of genes located on the X chromosome that are associated with intellectual disability and evidences used to classify such variants.

Category:

Education

Tags:

• Elaine Lyon
• Medical Director
• Genetics Division
• Pharmacogenomics
• ARUP Laboratories
• University of Utah
• Pathology
• genetic variation
• sequence and gene/exonic
• X chromosome
• Molec Molec lar ular Testing
• Genetics
• X‐linked Developmental Delay
• Rett‐like Syndrome
• Fragile X Syndrome
• Molecular Defect
• Health Care
• Patient Care
• Laboratory Medicine
• Lab testing
• FX Screening Assay
• MECP2 Gene Pathogenic