Laboratory Genetics

The Division of Laboratory Genetics actively contributes to the study of genetic disease and the advancement of genetic testing and related technology, with a goal of enhancing clinical patient care. Within each laboratory, board-certified directors and genetic counselors work closely with laboratory supervisors and technologists to ensure that accurate, reliable results are available in a timely manner.


The Cytogenetics Laboratory provides comprehensive services in all types of chromosome studies, including congenital disorders, prenatal diagnosis and hematologic or oncologic disorders. These studies include traditional cytogenetics techniques as well as molecular cytogenetics by FISH and microarray.

The Molecular Genetics Laboratory provides expertise in DNA and molecular genetic testing for both congenital disorders and hematology/oncology.

The Clinical Genomics Sequencing Laboratory will support the Next Generation Sequencing needs of the Individualized Medicine (IM) Clinic to integrate the latest in genomic testing and clinical sciences into personalized care for each Mayo Clinic patient.

The Biochemical Genetics Laboratory is concerned with the evaluation and diagnosis of patients and families with inherited metabolic disease. It monitors treatment and differentiates heterozygous carriers from noncarriers of genes by metabolite and enzymatic analysis of physiological fluids and tissues.

The Fertility Laboratory offers analytic tests for assessing the fertility status of (primarily) male patients. General semen analysis, post-vasectomy analysis, antisperm antibody analysis and the assessment of individual sperm morphology are among the laboratory's work.

Patient Care and Professional Collaboration

Laboratory Genetics staff provides superior technical expertise and consultative services to ensure the highest quality of patient care by:

  • Obtaining information regarding the reason for testing and relevant clinical and family history in order to provide the most accurate interpretation of results
  • Monitoring the reason for testing and pertinent family history information for many tests in order to ensure appropriateness of testing
  • Providing (when requested) referrals to clinical genetic facilities
  • Providing access to board-certified geneticists and genetic counselors to assist with test selection, interpretation of results and recommendations for follow-up

Research and Development

Clinical testing at Mayo Clinic benefits from active research and development programs. Development activities in the Division of Laboratory Genetics are focused on improving current test strategies and introducing new genetic tests. All approved tests meet rigid validation standards that include a thorough evaluation of methodology and clinical utility. Mayo research programs combine the expertise and experience of Mayo scientists to advance the field of genetics and genetic testing.

Mayo Clinic Laboratories (MCL)

Laboratory Genetics offers genetic testing through MCL, the diagnostic laboratory referral center for Mayo Clinic. MCL specializes in providing esoteric laboratory testing for health care organizations throughout the United States and around the world. For more information, visit the Mayo Clinic Laboratories website.