Mayo Clinic GeneGuide
Mayo Clinic GeneGuide™
Genetic Results Information
Find a wealth of information in Mayo Clinic GeneGuide™ that is specific to your genetics, health and potential risk factors.

Trusted science. Expert guidance.


Disease Risk.

Your DNA and lifestyle factors can have an impact on your health. Changes in your DNA might impact your risk of certain diseases.

Age-Related Macular Degeneration (ARMD)
Age-related macular degeneration (ARMD) is a common eye condition in people over the age of 50. ARMD causes blurred central vision or a blind spot in the center of the visual field. It does not lead to complete loss of vision.
Atrial Fibrillation
Atrial fibrillation is an irregular and often rapid heart rate. It can increase a person’s risk of stroke, heart failure and other heart-related complications. It can also lead to blood clots forming in the heart that may travel to other organs and block blood flow.
Coronary Artery Disease (CAD)
Coronary artery disease is the major cause of heart attacks, which occur when the blood vessels that bring oxygen to the heart are blocked. Signs and symptoms include shortness of breath, chest pain and heart attack.
Venous Thromboembolism
Venous thromboembolism is a condition in which one or more abnormal blood clots form in a vein. These clots can cause medical complications and may even be life-threatening.

Sample genetic test result for this category in an easy-to-read educational format
Example Laboratory Test Report that you can take to your physician


Carrier Screening.

Knowing your carrier status can help you prepare for your future family. Carrier screening tests determine if a person is a carrier for a specific recessive condition. Carriers typically do not have the condition, but screening can be helpful to couples to determine the chances of their child inheriting a recessive condition.

Find out if you are a carrier for these hereditary conditions:

Cystic Fibrosis
Cystic fibrosis (CF) is a condition that can cause damage to the respiratory (lungs) system and affect the function of the digestive (stomach, intestines, pancreas) and reproductive systems (sex organs). CF also affects the cells that produce mucus, sweat and digestive fluids.
GJB2-Related Hearing Loss
Changes in the GJB2 gene are the most common cause of hereditary hearing loss. GJB2-related hearing loss is typically present at birth, is slowly progressive, and can be mild to severe.
MCAD Deficiency
Medium-chain acyl-CoA dehydrogenase deficiency is an inherited disorder that affects the body's ability to break down certain fats and convert them into energy. Symptoms typically appear in babies and young children. If diagnosed and treated early, the disorder can be managed through diet and lifestyle actions. In rare cases, diagnosis does not occur until adulthood. Left untreated, it can lead to seizures, breathing difficulties, coma and other serious health problems.
Sickle Cell Disease
Sickle cell disease is a condition in which normal red blood cells, which are flexible and round, become stiff and sickle-shaped. Normal red blood cells carry oxygen to the body’s tissues. Sickle cells have a much shorter lifespan than normal red blood cells, causing chronic shortage of red blood cells in the body, called anemia. Symptoms include pain episodes, swelling of the hands/feet, frequent infections, delayed growth and vision issues.

Sample genetic test result for this category in an easy-to-read educational format
Example Laboratory Test Report that you can take to your physician


Medication Response.

Discover pharmacogenomics ─ learn about how changes in some genes may impact how your body metabolizes certain medications.

Learn about:

Ibuprofen Metabolism
Ibuprofen is an over-the-counter medication commonly used to relieve pain and inflammation. It is available under a variety of brand names, including Advil, Motrin and others. Variants in the CYP2C9 gene can affect how the body breaks down (metabolizes) ibuprofen. Some variants decrease ibuprofen metabolism, causing the medication to build up in the body over time, which may increase the risk of side effects.
Malignant Hyperthermia Susceptibility
Malignant hyperthermia is a condition that can cause a severe reaction to anesthesia. Signs and symptoms of malignant hyperthermia include a dangerously high body temperature, severe muscle spasms and a fast heart rate after exposure to anesthesia. Prompt medical response to any severe anesthesia reaction is critical.
Omeprazole Metabolism
Omeprazole is a medication most often used to treat conditions where there is too much acid in the stomach. It's available by prescription or over-the-counter (OTC) under a variety of brand names including Prilosec and Prilosec OTC. Variants in the CYP2C19 gene can affect how the body breaks down (metabolizes) omeprazole which can impact risk for side effects or effectiveness of the medication.
Pseudocholinesterase Deficiency
Pseudocholinesterase deficiency is a condition that makes a person sensitive to anesthesia. Both genetic variants and non-genetic factors associated with this condition can cause the muscles to stay relaxed longer than expected; this can prevent a person from moving or breathing on their own for longer than expected after surgery.

Sample genetic test result for this category in an easy-to-read educational format
Example Laboratory Test Report that you can take to your physician


Health Traits.

Discover the genes behind your health traits.

Alcohol Flush Reaction
Alcohol flush is a genetic trait that interferes with the body’s ability to break down alcohol. When people with this trait drink alcohol, they experience facial redness, rapid heartbeat, nausea, and low blood pressure. In addition to causing alcohol flush, people with the trait have an increased risk of cancer of the esophagus.
Atopic Dermatitis
Atopic dermatitis (eczema) is a condition that causes the skin to become red, itchy and prone to rashes.
Lactase Persistence
Lactase persistence is a genetic trait that affects the body’s ability to digest dairy products. Lactase is an enzyme that helps digest the sugar found in milk (lactose). People with lactase persistence can easily digest milk products throughout their lifetime. Those who do not have lactase persistence, known as lactose intolerance, may experience bloating and abdominal pain, nausea, gas and diarrhea.

Sample genetic test result for this category in an easy-to-read educational format
Example Laboratory Test Report that you can take to your physician