Dr. Linda Hasadsri of the Mayo Clinic speaking at AMP 2020, The Association for Molecular Pathology. Review benefits of utilizing expanded carrier screening (ECS) and guidelines to consider in developing ECS content and reporting. Deep dive into several interesting Mayo Clinic case studies, illustrating the capabilities and complexities of ECS. Learn more about ECS: [ Ссылка ]
Universal, or pan-ethnic, or expanded carrier screening, again ECS for short, panels are tests which include typically 20 or more inherited mostly autosomal recessive disorders. The target population for this test is couples who are pregnant or planning to be and so in the US alone this is actually over six million individuals
Expanded Carrier Screening: A General Overview
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expanded carrier screeninggenetic disordergenetic mutationinherited diseasepan ethnicECScarrier detectioncarrier screening genetic analysiscarrier status detectioncnvcopy number variantsecsgene panelgenetic disordersgenetic variantsindelinherited disordersinsertions and deletionsnext-generation sequencingngspan-ethnicpreconception screeningreproductive riskresidual risksingle-nucleotide variantssnvvariant calling