Mayo Clinic Laboratories > Genetics > Hereditary testing by specialty

Hereditary testing by specialty

Transform lives with clinically actionable testing

The collaboration between the cytogenetics, molecular genetics, and biochemical genetics laboratories at Mayo Clinic enables an informed, holistic approach to test development. Our comprehensive hereditary testing was developed by an experienced team of laboratory geneticists, molecular genetic pathologists, genetic counselors, and variant scientists and designed to provide meaningful answers across the spectrum of inherited illness. Offering molecular, cytogenic, biochemical, and functional assays, we strive to be a one-stop laboratory for all hereditary testing needs.

260

260 molecular genetic tests

101

101 cytogenetic evaluations

~462,000

~462,000 evaluations performed each year

Test menu

Cardiology Cardiology
Cardiology

Our genetic cardiology assays use next-generation sequencing to assess genetic variants related to diagnosis and prognosis. These findings not only facilitate understanding of the natural history of the disease and appropriate medical interventions or surveillance but also help identify patients at risk for developing cardiac disorders who might require earlier interventions.  

Exploratory testing Exploratory testing
Exploratory testing

Our whole exome sequencing (WES) and whole genome sequencing (WGS) utilize next-generation sequencing to interrogate all genes in the human genome. WES investigates approximately 20,000 genes in patients with suspected hereditary disorders. WGS is more comprehensive in the variant classes it can identify and interrogates nearly every base pair of an individual’s DNA, including the mitochondrial genome.

Gastroenterology Gastroenterology
Gastroenterology

Our full-spectrum test menu features genetic analyses for inflammatory bowel disease, liver disease, and pancreatic disease. Expert-backed and patient-focused, our tests can assist in identifying disorders and facilitate appropriate treatment. 

Hearing loss Hearing loss
Hearing loss

Our comprehensive hearing loss molecular analysis includes the genes most commonly associated with inherited hearing loss. Some of these genes are complex and require the use of multiple techniques beyond NGS. This robust interrogation, ensuring that these complicated genes are included, prevents false-negative results.

Hematology Hematology
Hematology

Our expanding suite of genetic assays for the detection of hematological disorders can confirm the diagnosis of certain bleeding, clotting, and platelet disorders.

Immunology Immunology
Immunology

Our robust offerings for inborn errors of immunity, which include testing for inherited cytopenia, immunodeficiencies, disorders of immune regulation, and viral susceptibility, among others, can assist with classifying the disorder, clarifying prognosis, and guiding treatment decisions.

Nephrology Nephrology
Nephrology

Including comprehensive and disease-focused panels, our nephrology tests use next-generation sequencing to assess hundreds of genes related to hereditary kidney disease. Our combined use of automated processes and manual review of each case provides efficient, high-quality results reported in the context of the patient information provided.

Neurology Neurology
Neurology

Our expansive menu of neurogenetic testing covers the full range of inherited neurologic disorders, including mitochondrial disease, epilepsy, muscular dystrophy, peripheral neuropathy, Alzheimer’s disease, Parkinson's disease, and ataxia. Our algorithmic and phenotypic approach to testing ensures the right patient receives the right test at the right time.

Oncology Oncology
Oncology

Our hereditary cancer panels use next-generation sequencing to evaluate dozens of genes associated with cancer risk, enabling precision insights for individuals identified with hereditary cancer syndromes. Our comprehensive, germline cancer analyses complement our somatic cancer testing, allowing for streamlined cancer evaluations in one laboratory.

Pulmonology Pulmonology
Pulmonology

Including testing for cystic fibrosis, primary ciliary dyskinesia, and alpha-1-antitrypsin, which is associated with early-onset panlobular emphysema, our molecular pulmonary diagnostics allow for improved clinical management. Testing can also assist in determining the need for familial screening.

Experience when it matters most

Caring for patients with a genetic illness can be complex. Mayo Clinic Laboratories offers direct access to our physicians, laboratory scientists, and genetic counselors to answer questions on test appropriateness, utilization, and results. Aiming to share our knowledge, we offer educational opportunities to increase awareness and strengthen your clinical practice.

News and updates

The latest

A new path forward: Hussein

For a young child diagnosed with inflammatory bowel disease, an unexpected turn of events led by results of a Mayo Clinic Laboratories test freed him and his family from the bonds of frequent medical visits and expensive treatment, and opened the door to a life unencumbered by illness.

Learn more
Hereditary oncology: Molecular testing for solid tumors

In this episode of Lab Medicine Rounds, Sounak Gupta, M.B.B.S., Ph.D., assistant professor of Laboratory Medicine and Pathology at Mayo Clinic, discusses hereditary oncology and the importance of performing molecular testing of solid tumors.

Orexin-A/Hypocretin-1 for the Diagnosis of Type 1 Narcolepsy [Test in Focus]

The standard test for the diagnosis of narcolepsy is the multiple sleep latency test (MSLT). The MSLT is a complex test to perform as well as to interpret. The orexin-A/hypocretin-1 test is a sensitive and specific alternative to the MSLT to diagnose type 1 narcolepsy.

Molecular Mitochondrial Testing [Test in Focus]

The diagnosis of mitochondrial disease can be particularly challenging as the presentation can occur at any age, involve virtually any organ system, and be associated with widely varying severities. Due to the considerable overlap in the clinical phenotypes of various mitochondrial disorders, it is often difficult to distinguish these specific inherited disorders without genetic testing.

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