Laboratory Genetics

By Mayo Clinic Staff

The Division of Laboratory Genetics was established in 1992 and included the Cytogenetics Laboratory, Molecular Genetics Laboratory, and the Fertility Testing Laboratory. The Biochemical Genetics Laboratory became part of the Division of Laboratory Genetics in 1996. Since its formation, the Division of Laboratory Genetics has actively contributed to the study of genetic disease and the advancement of genetic testing and related technology. This effort is ultimately aimed at 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 and timely results are available.

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

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

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, postvasectomy analysis, antisperm antibody analysis, and the assessment of individual sperm morphology are among the laboratory's work.

Patient Care and Professional Collaboration
We provide superior technical expertise and consultative services to ensure the highest quality of patient care. We meet this standard by:

  • Obtaining information regarding reason for testing and relevant clinical/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. Developmental 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. Our research programs combine the expertise and experience of Mayo scientists to advance the field of genetics and genetic testing.

Mayo Medical Laboratories and Mayo Clinic
Laboratory Genetics offers genetic testing through Mayo Medical Laboratories (MML), the diagnostic laboratory referral center for Mayo Clinic. MML specializes in providing esoteric laboratory testing for health-care organizations throughout the United States and around the world.