Mayo Clinic Laboratories > Genetics

Revelatory evaluations to advance awareness and individualize care

For more than 50 years, Mayo Clinic Laboratories has been providing meaningful results to individuals seeking genetic answers. Rare genetic disorders can be among the most difficult conditions to diagnose. To provide meaningful answers, our genetic testing is developed and supported by an integrated team of clinical, genetic, and laboratory experts and uses precision technologies to reveal variations related to diagnosis and treatment. Built around a tradition of placing patients’ needs first, our testing generates personalized insights to elevate understanding of a patient’s condition. 

Patient Spotlight A journey to diagnosis: One patient’s story of resilience and hope
Patient Spotlight Innovative SORD test provides clarity for two young patients
Answers From the Lab Making Informed Decisions About Genetic Testing
Answers From the Lab Unique Testing Helps Identify Cause of Sudden Cardiac Death
Patient Spotlight Regaining quality of life after a decade lost to misdiagnosis: Kelly Dubois
Answers From the Lab Whole exome sequencing for genetic disorders

GENETIC SERVICES

Custom gene ordering Custom gene ordering
Custom gene ordering

In instances when our established test offerings do not meet your patients’ needs, custom gene ordering is available to explore potential genetic causes for a patient’s phenotype or to characterize a specific finding. Custom gene ordering may be used to create a unique panel, add or remove genes from established panels, or order a single gene. Our tailored approach to testing helps ensure patients receive the right test. In addition, genetic counselors are available to consult on testing appropriateness.

Familial studies Familial studies
Familial studies

We offer familial testing for specific conditions when a genetic variant of interest has been previously identified in an individual and follow-up testing for the specific variant in  family members is desired. Our genetic counselors can provide additional details about the importance of testing a family member for the known variant and their level of risk.

Genetic counselors Genetic counselors
Genetic counselors

Our genetic experts continuously expand their understanding of genetic discoveries. Laboratory genetic counselors can help guide test ordering and provide interpretive results reporting.

Hereditary testing by specialty Hereditary testing by specialty
Hereditary testing by specialty

Our comprehensive hereditary disorders test menu encompasses testing for inherited forms of cancer, cardiovascular disorders, neurogenetics, renal disorders, and more. Genome and exome sequencing are available in addition to single genes and targeted panels. Offering molecular, cytogenetic, biochemical, and functional assays, we strive to be a one-stop laboratory for all testing needs.  

Inborn errors of metabolism Inborn errors of metabolism
 Inborn errors of metabolism

Our robust portfolio of evaluations is designed to detect and monitor patients with inborn errors of metabolism. Through newborn screening and diagnostic testing, we aim to identify serious health conditions for which early detection and intervention can greatly improve healthy development and positive outcomes. We evaluate for dozens of conditions, including amino acid disorders, carbohydrate deficiencies, lysosomal disorders, and more. These rare conditions, when left untreated, can result in severe physical and neurological impairment or even death.

Pharmacogenomic testing Pharmacogenomic testing
Pharmacogenomic testing

Because research studies show a significant percentage of individuals possess genetic variation that impacts therapeutic response, establishing patients' genetic profiles allows physicians to individualize medication selection. This optimizes therapeutic efficacy while avoiding harmful drug reactions. Developed to align with practice guidelines, our PGx testing provides superior analytical and clinical quality, enabling detection of an inclusive set of alleles.

Prenatal testing Prenatal testing
Prenatal testing

Featuring carrier screening options and diagnostic assays, our offerings include molecular testing for a variety of genetic conditions, including known familial variants. We also offer cytogenetic analysis options such as karyotype, targeted fluorescent in situ hybridization (FISH), and microarray to evaluate for chromosomal aneuploidy and copy number variants.

“We understand supplemental assays come with additional cost and effort, but our commitment to providing complete and accurate results for our patients motivates us to go beyond standard lab testing processes.”

Wei Shen, Ph.D., associate director of the Clinical Genome Sequencing Laboratory at Mayo Clinic.

Our difference

Unparalleled genetic expertise
Mayo Clinic Laboratories’ collaborative team of experienced laboratory geneticists, molecular pathologists, genetic counselors, and variant scientists drive test development and apply their extensive knowledge to interpret complex results. In addition to having expertise in specific areas of medicine, our experts are actively involved in the field of genomics and continuously expand their understanding of genetic discoveries, which informs test development. Our team can help guide test ordering and provide interpretive results reporting.

Results you can rely on
Since launching its first genetic assay in 1968, Mayo Clinic Laboratories has supplied trustworthy answers to complicated genetic questions. Our integration with the Division of Laboratory Genetics at Mayo Clinic ensures a robust test development pipeline that enables the ongoing release of innovative diagnostics. For genome and exome testing, we archive our patients’ genetic data and make that information accessible for reanalysis as additional gene-disease relationships are discovered.

Empowering caregivers
Our genetic experts provide consultative services and on-demand educational opportunities to help strengthen your practice, advance clinical knowledge, and increase confidence in our testing. Through educational opportunities, guidance from our clinical specialty representatives, and review of genetic testing orders by our genetic experts, we can enhance test utilization and reduce unnecessary spending.

News and updates

The latest

A journey to diagnosis: One patient’s story of resilience and hope

For many, the path to a correct diagnosis can be long and filled with uncertainty. This story highlights the resilience and determination of one patient who navigated a complex medical journey to find answers and hope at Mayo Clinic. The patient asked to remain anonymous for personal privacy reasons.

Learn more
Advancing Immunosuppressive Therapy in Solid Organ Transplantation: Integrating Pharmacogenomics, Therapeutic Drug Monitoring, and Precision Medicine

Register now: Aug. 13, 2025 - PACE/State of FL - The critical role of pharmacogenomics and therapeutic drug monitoring (TDM) in managing immunosuppressive therapy for solid organ transplant recipients.

A journey to diagnosis: One patient’s story of resilience and hope

For many, the path to a correct diagnosis can be long and filled with uncertainty. This story highlights the resilience and determination of one patient who navigated a complex medical journey to find answers and hope at Mayo Clinic. The patient asked to remain anonymous for personal privacy reasons.

Cytology Specimen Utilization: A Proven Approach to Genetic Sequencing

PACE/State of FL - The role of cytology specimens in molecular genetic testing, emphasizing their effectiveness in identifying biomarkers critical for targeted therapies in patients with cancer.

Comprehensive Genetic Test Guides Prescribing of a Transplant Anti-Rejection Drug: Jessica Wright, Pharm.D., BCACP

Jessica Wright, Pharm.D., BCACP, explains how Mayo Clinic Laboratories' 3A5Q test helps determine initial tacrolimus doses for individuals after non-liver organ transplants. Optimal tacrolimus levels are one of the important factors in survival of the transplanted organ.

Innovative SORD test provides clarity for two young patients: Justin Fugelsang and Zach Pedowitz

Justin Fugelsang and Zach Pedowitz have never met. Yet both young men were diagnosed with a rare form of Charcot-Marie-Tooth disease, called sorbitol dehydrogenase (SORD) deficiency, and both found clarity through Mayo Clinic Laboratories' innovative SORD testing. Their journeys inspire resilience, as Justin has channeled his emotions into guitar playing, and Zach has embraced educational leadership.

Making Informed Decisions About Genetic Testing: Carrie Lahner, M.S., CGC, and April Studinski Jones, M.S., CGC

In this episode of “Answers From the Lab,” host Bobbi Pritt, M.D., chair of the Division of Clinical Microbiology at Mayo Clinic, is joined by genetic counselors Carrie Lahner, M.S., CGC, and April Studinski Jones, M.S., CGC, to discuss how family medical history can inform genetic testing strategies.

Genetic Tests Identify Risk of Irinotecan-Induced Toxicity: John Logan Black, M.D.

John Logan Black, M.D., explains how Mayo Clinic Laboratories' UGT1A1 tests (Mayo IDs: U1A1Q and UGTFZ) identify genetic variants that increase the risk of potentially life-threatening reactions to irinotecan, a chemotherapy agent.

Dr. Dong Chen and Dr. Sounak Gupta join Becker’s Healthcare Podcast to discuss molecular testing in cancer care

Dr. Dong Chen and Dr. Sounak Gupta joined the “Becker’s Healthcare Podcast” to discuss the molecular testing space and its important role in personalized cancer treatment. Dr. Chen and Dr. Gupta highlighted the importance of selecting the right molecular tests for patients, the impact of genetic testing on cancer diagnosis and treatment, and how Mayo Clinic Laboratories is helping physicians make informed decisions for the best patient outcomes.

Optimizing Cancer Care: ASCO Guidelines for Germline Genetic Testing

PACE/State of FL - The latest ASCO guidelines for selection of germline genetic testing panels for cancer patients.

Unique Test Screens for Recently Identified Peripheral Neuropathy: Matthew Schultz, Ph.D., and Amy White, M.S., CGC

Matthew J. Schultz, Ph.D., and Amy L. White, M.S., CGC, explain how Mayo Clinic Laboratories' unique urine assay (Mayo ID: SORD) screens for peripheral neuropathy arising from SORD gene variants. Although recently identified, SORD-related peripheral neuropathy is fairly common.

Krabbe disease added to federal newborn screening panel

Thanks to advocacy work by a group of medical experts, including some from Mayo Clinic, the U.S. Department of Health and Human Services now recommends all states screen for infantile Krabbe disease to help save newborn lives.

Genetic Tests Identify Risk of Fluoropyrimidine-Induced Toxicity: Ann Moyer, M.D., Ph.D.

Ann Moyer, M.D., Ph.D., explains how Mayo Clinic Laboratories' unique genetic tests identify patients at high risk of severe reactions to fluoropyrimidines — a type of chemotherapy drug. Test results can guide clinical decision-making for safer cancer treatment.

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