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Clinical Testing

The University of Chicago Genetic Services Laboratories is a CLIA- and CAP-certified laboratory, which offers cutting-edge DNA diagnostic services. Our molecular diagnostic laboratory has a particular focus on testing of rare genetic diseases for which testing may not be readily available elsewhere. To this end the DNA diagnostic laboratory works closely with research groups to develop new clinical tests for genetic disorders as their genetic bases become 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 diagnostic technologies for improved and comprehensive testing that include Sanger sequencing, MLPA, array-CGH and next generation sequencing techniques including exome sequencing.

Certifications: CAP Certificate, CAP letter on COVID-19CLIA Certificate, Maryland Permit, Pennsylvania Permit, Rhode Island Permit, California Permit

Research and Collaboration

The University of Chicago Genetic Services Laboratories is dedicated to furthering the understanding of rare genetic disorders, through collaboration with experts in the field and other research groups. We perform genotype-phenotype correlation studies, new test and technology studies, mutation spectrum studies, case studies and other types of studies that improve our understanding of the molecular and clinical spectrum of genetic disorders and result in improved diagnostics. We value the importance of making genetic data publicly available to help further the understanding of genetic variation and disease, and we are dedicated to sharing our de-identified data through the National Institutes of Health Clinical Genome Resource (ClinGen).

Learn more about research at our laboratory

Clinical Molecular Genetics Fellowship Program

Our laboratory is committed to providing training in clinical molecular genetics, and our training program is accredited by the American Board of Medical Genetics and Genomics (ABMGG). The training program benefits from a wide range of clinical and research activities across multiple departments at the University and Medical Center.   

Learn more about our fellowship training programs