Laboratory genetics and genomics is a laboratory-based discipline of medical genetics and genomics that focuses on analysis and interpretation of, and communication of results from, assays that identify constitutional/germline and somatic/acquired genetic changes underlying human disease. These include chromosomal aneuploidies, genomic copy number variations, chromosomal rearrangements, changes in DNA sequence, DNA methylation and gene expression.

Laboratory genetics and genomics programs provide post-doctoral education in the technical skills and the knowledge necessary to perform and interpret results that impact the diagnosis and management of human genetic diseases. Upon successful completion of such a program, these specialists can function as laboratory directors or technical supervisors of clinical laboratories, and as clinical consultants in the management of patients with a broad range of somatic or inherited disorders.