Molecular Genetics Laboratory

The Molecular Genetics Laboratory offers testing for both routine inherited and oncology disorders. Some examples include targeted known mutation analysis, for a family member for any sequence variant identified by Sanger sequencing or Next Generation Sequencing (NGS) either at IU or through another laboratory. In addition, known mutation testing is available for individuals who wish to have clinical laboratory confirmation of variants identified through research laboratories such as the Longitudinal Early-onset Alzheimer Disease Study (LEADS). This laboratory works closely with the Undiagnosed Rare Disease Clinic and develops custom assays to resolve variants of unknown significance.