Within the framework of the Special Medical Procedures Act, the Amsterdam UMC Genome Diagnostics (AGDx) laboratories perform diagnostics for hereditary disorders for Amsterdam UMC, other Dutch and international hospitals. The diagnostic test content is continuously kept up-to-date.
AGDx-test quality
Genetic testing is performed in grade A and grade C. Grade A refers to 100% coverage of genes whose sequence is at least 30x. Other tests are performed in grade C (grade C >95% of base pair coverage at >30x). After thorough validation, each report is interpreted and checked by at least 2 laboratory specialists, working in an interdisciplinary team of clinical laboratory specialists and clinicians.
AGDx is part of the Department of Human Genetics and is divided over the following locations:
- The Laboratory of Genome Diagnostics Amsterdam UMC, Location AMC, EN-ISO15189:2012 accredited (RvA, M174)
- The Laboratory of Genome Diagnostics Amsterdam UMC, Location VUmc, EN-ISO15189:2012 accredited (RvA, M130).
AGDx participates in the EMQN and UK NEQAS external quality assessment programmes.
AGDx-collaboration
AGDx works together with a large network of medical specialists in various disciplines (cardiology, pediatrics, oncology, neurology, endocrinology, hematology, ophthalmogenetics).
Test service
AGDx offers NGS (Next Generation Sequencing) targeted panels, Whole Exome Sequencing (WES), conventional single gene sequencing, deletion/duplication assays, methylation assays, and array CGH for copy number analysis. In addition, we offer preconception and prenatal diagnostic testing services.