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
Multigene panel provides efficient ataxia diagnosis: Angela Pickart, M.S., CGC, and Emily Lauer, M.S., CGC

Angela Pickart, M.S., CGC, and Emily Lauer, M.S., CGC, explain how Mayo Clinic Laboratories' multigene panel helps identify the cause of hereditary ataxia. Precise diagnosis of this complex movement disorder helps guide patient treatment and family screening.

Test assesses all inherited Parkinson’s disease genes:  Zhiyv (Neal) Niu, Ph.D., and Rodolfo Savica, M.D., Ph.D.

Zhiyv (Neal) Niu, Ph.D., and Rodolfo Savica, M.D., Ph.D., explain why Mayo Clinic Laboratories' gene panel is the most comprehensive test available for inherited Parkinson's disease. The new panel covers all mutations known to cause the condition — or increase the risk of developing it.

Neuromuscular gene panel provides comprehensive analysis: Zhiyv (Neal) Niu, Ph.D., and Christopher Klein, M.D.

Zhiyv (Neal) Niu, Ph.D., and Christopher Klein, M.D., explain how Mayo Clinic Laboratories' updated neuromuscular gene panel informs diagnosis and treatment. The phenotype-based panel covers the complete list of neuromuscular genes and their variants.

Neuropathy and Neuromuscular Gene Panel Update

In this month's "Hot Topic," Christopher Klein, M.D., and Zhiyv (Neal) Niu, Ph.D., discuss how Mayo Clinic’s neuropathy and neuromuscular gene panels have enhanced patient care.

Whole genome sequencing streamlines diagnosis

Nicole Boczek, Ph.D., and Sarah Barnett, M.S., CGC, explain how Mayo Clinic Laboratories' whole genome sequencing provides comprehensive information for rapid diagnosis of hereditary disorders.

Chromosomal microarray better informs brain tumor diagnosis

Molecular biomarkers are a critical component in the treatment of adult and pediatric brain tumors. Robert Jenkins, M.D., Ph.D., explains how Mayo Clinic Laboratories' chromosomal microarray provides more comprehensive and accurate tumor analysis compared with other test methods.

Genetic Testing for Inherited Cardiovascular Disorders

In this month's "Hot Topic," Linnea Baudhuin, Ph.D., discusses Mayo Clinic Laboratories’ up-to-date gene panel tests for cardiomyopathies and arrhythmias, connective tissue and vascular fragility disorders, dyslipidemias, and congenital heart disease.

Carrier Screening

Linda Hasadsri, M.D., Ph.D., explains carrier screening at Mayo Clinic Laboratories. Using targeted genotyping, our three focused panels evaluate genes associated with cystic fibrosis, spinal muscular atrophy, and hemoglobinopathies, to provide clear answers on reproductive risks and to guide decision-making.

Whole exome sequencing for hereditary disorders

Cherisse Marcou, Ph.D., and Marissa Ellingson, M.S., CGC, discuss whole exome sequencing (WES) at Mayo Clinic Laboratories. The comprehensive evaluation uses next-generation sequencing to detect for single nucleotide variants, small insertions or deletions, and copy number variants on approximately 20,000 genes, enabling precision answers to accurately diagnose, manage, and treat patients with identified inherited illness.

Hereditary Oncology Testing [Test in Focus]

Wei Shen, Ph.D., explains Mayo Clinic Laboratories' new expert-backed, hereditary oncology panels, which use next-generation sequencing to identify genetic mutations linked to increased cancer risk. By only including clinically significant genes, the panels provide clarity on diagnosis, prognosis, and treatment approaches.

Mitochondrial Disease [Test in Focus]

Linda Hasadsri, M.D., Ph.D., explains how Mayo Clinic Laboratories’ inclusive approach to mitochondrial disease testing expedites diagnosis. Using innovative methodologies like custom reagents and droplet digital PCR enables precision insights on prognosis and treatment options.

Shining light on one family’s struggle: Barbara, Deborah, Pamela, and Rylie

Before testing at Mayo Clinic Laboratories, Barbara Domaille, Deborah Neville, Pamela Neville, and Rylie Ronnenberg thought there could be a genetic connection to the hip problems they shared. After the testing, they knew for sure.

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