Molecular Genetics

The Molecular Genetics Laboratory offers cutting-edge DNA diagnostic services. Our laboratory has a particular focus on testing of rare genetic diseases for which testing may not be readily available elsewhere. To this end, we work closely with research groups to develop new clinical tests for genetic disorders as their genetic basis is identified and facilitate the transition of research findings to the diagnostic arena. Since our clinical laboratory was established in 1998, our test menu and areas of expertise has expanded to include a wide array of neurodevelopmental and congenital malformation disorders, endocrine disorders such as monogenic forms of diabetes, hereditary forms of cancer, and ataxia. We develop, validate and implement a range of molecular technologies for improved and comprehensive testing that includes Next-Generation Sequencing (NGS), qPCR, Sanger Sequencing, MLPA. In addition to offering whole exome sequencing, all of our panel samples are run on an exome backbone. This allows us flexibility to reanalyze existing data and easily partner with researchers and clinicians at the University of Chicago.