Genetic testing

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Displaying 1-4 out of 4 doctors available

  1. Michael J. Ackerman, M.D., Ph.D.

    Michael J. Ackerman, M.D., Ph.D.

    1. Pediatric Cardiologist
    1. Rochester, MN
    Areas of focus:

    Genetic testing, Long QT syndrome, Brugada syndrome, Hypertrophic cardiomyopathy, Drowning, Sudden infant death syndrom...e, Catecholaminergic polymorphic ventricular tachycardia

  2. John R. Giudicessi, M.D., Ph.D.

    John R. Giudicessi, M.D., Ph.D.

    1. Cardiologist
    1. Rochester, MN
    Areas of focus:

    Genetic testing, Sudden cardiac arrest, Long QT syndrome, Brugada syndrome, Hypertrophic cardiomyopathy, Ventricular fi...brillation, Cardiac sarcoidosis, Arrhythmogenic right ventricular cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia , Short QT syndrome

  3. Talha Niaz, M.B.B.S.

    Talha Niaz, M.B.B.S.

    1. Echocardiographer
    2. Pediatric Cardiologist
    1. Rochester, MN
    Areas of focus:

    Genetic testing, Echocardiogram, Fetal echocardiogram, Congenital heart defects in children, Cardiomyopathy, Aortic ane...urysm, Marfan syndrome, Aortic dissection, Thoracic aortic aneurysm, Bicuspid aortic valve, DiGeorge syndrome, Turner syndrome, Noonan syndrome, Arterial aneurysm, Alagille syndrome, Arteritis, Genetic disorder, Fetal heart disease, Elastin arteriopathy, Microduplication syndromes, Chromosomal disorders, Cutis laxa, Loeys-Dietz syndrome, Arterial tortuosity syndrome, Thoracic aortic dissection, Myhre syndrome, Microdeletion syndromes, Vascular Ehlers-Danlos syndrome, Holt-Oram syndrome, Williams syndrome, Kabuki syndrome

  4. Lisa A. Schimmenti, M.D.

    Lisa A. Schimmenti, M.D.

    1. Medical Geneticist
    2. Pediatrician
    1. Rochester, MN
    Areas of focus:

    Genetic testing, Newborn screening, Retinitis pigmentosa, Hearing loss, Genetic disorder, Bardet-Biedl syndrome, Eye pr...oblem, Hearing loss in children

Research

The Department of Clinical Genomics-Research at Mayo Clinic does research to better understand the role of genetics in a variety of cancers and other conditions. This research may lead to better methods of screening, prevention and treatment for many types of genetic conditions.

Mayo Clinic is committed to genetics and genomics research through many research projects. These are just two examples:

  • The Colon Cancer Family Registry at Mayo Clinic is part of an international consortium dedicated to furthering an understanding of the risk factors for colorectal cancer.
  • The Mayo Clinic Biobank collects donated blood samples that are available for studies aimed at a better understanding of how a person's genes influence overall health and wellness.

Publications

See a list of publications about genetic testing by Mayo Clinic doctors on PubMed, a service of the National Library of Medicine.

By Mayo Clinic Staff

Genetic testing care at Mayo Clinic

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AboutCare at Mayo Clinic
Feb. 27, 2026
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  1. Genetic testing for cancer risk. American Cancer Society. https://www.cancer.org/cancer/risk-prevention/genetics/genetic-testing-for-cancer-risk.html. Accessed Aug. 25, 2025.
  2. Genetic testing. Centers for Disease Control and Prevention. https://www.cdc.gov/genomics-and-health/counseling-testing/genetic-testing.html. Accessed Aug. 25, 2025.
  3. Genetic testing. American Medical Association. https://www.ama-assn.org/delivering-care/population-health/genetic-testing. Accessed Aug. 25, 2025.
  4. Direct-to-consumer genetic testing. American Medical Association. https://www.ama-assn.org/delivering-care/population-health/direct-consumer-genetic-testing. Accessed Aug. 25, 2025.
  5. Genetic discrimination. American Medical Association. https://www.ama-assn.org/delivering-care/population-health/genetic-discrimination. Accessed Aug. 25, 2025.
  6. FAQs: Prenatal genetic screening tests. American College of Obstetricians and Gynecologists. https://www.acog.org/womens-health/faqs/prenatal-genetic-screening-tests. Accessed Aug. 25, 2025.
  7. American College of Obstetricians and Gynecologists. Practice Bulletin No. 162: Prenatal diagnostic testing for genetic disorders. Obstetrics & Gynecology. 2016; doi:10.1097/AOG.0000000000001438. Reaffirmed 2024.
  8. Hertz DL, et al. Recommendations for pharmacogenetic testing in clinical practice guidelines in the US. American Journal of Health-System Pharmacy. 2024; doi:10.1093/ajhp/zxae110.
  9. FAQs: BRCA1 and BRCA2 mutations. American College of Obstetricians and Gynecologists. https://www.acog.org/womens-health/faqs/brca1-and-brca2-mutations. Accessed Aug. 25, 2025.
  10. FAQs: Carrier screening. American College of Obstetricians and Gynecologists. https://www.acog.org/womens-health/faqs/carrier-screening. Accessed Aug. 25, 2025.
  11. Genetic testing for inherited cancer risk. National Cancer Institute. https://www.cancer.gov/about-cancer/causes-prevention/genetics/genetic-testing-fact-sheet. Accessed Aug. 25, 2025.
  12. Idiopathic pulmonary fibrosis gene panel, varies. Mayo Clinic Laboratories. https://www.mayocliniclabs.com/test-catalog/overview/621589#Clinical-and-Interpretive. Accessed Aug. 25, 2025.
  13. Expanded pancreatitis gene panel, varies. Mayo Clinic Laboratories. https://www.mayocliniclabs.com/test-catalog/overview/621965#Clinical-and-Interpretive. Accessed Aug. 25, 2025.
  14. Early onset monogenic inflammatory bowel disease (IBD) gene panel, varies. Mayo Clinic Laboratories. https://www.mayocliniclabs.com/test-catalog/overview/620120#Clinical-and-Interpretive. Accessed Aug. 25, 2025.
  15. Huntington's disease. National Institute of Neurological Disorders and Stroke. https://www.ninds.nih.gov/health-information/disorders/huntingtons-disease. Accessed Aug. 27, 2025.
  16. Kim H, et al. Clinical circulating tumor DNA testing for precision oncology. Cancer Research and Treatment. 2023; doi:10.4143/crt.2022.1026.
  17. Newborn screening: Condition information. Health Resources & Services Administration. https://newbornscreening.hrsa.gov/conditions. Accessed Aug. 28, 2025.
  18. Newborn screening process. Health Resources & Services Administration. https://newbornscreening.hrsa.gov/newborn-screening-process. Accessed Aug. 28, 2025.
  19. Medical review (expert opinion). Mayo Clinic. Sept. 12, 2025.

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