Genetic Results

This page is here to help you explore the types of genetic results we may return. The biobank may not have results for all participants. Results may not be returned for several months, or even years, after enrollment. For more details about how the return of results process works, please visit our main Results page.

The information on this page is not medical advice. It provides general information about genetic test results only. Contact your doctor if you have questions about any genetic test results. Do not change or stop your medicines without talking to your doctor first. For medical help, visit a healthcare facility.

The biobank genetic tests do not look for all genetic variants in these genes. There are also many other genes linked to diseases like cancer and heart disease that are not tested for by the biobank.

It is important to remember that if you are not contacted by the biobank, it does not mean that you don’t have a genetic variant that may increase risk for the conditions described. If you are concerned about your or your family’s health history, you should talk to your doctor about a more complete genetic test or evaluation. The biobank genetic test is not as complete as genetic tests ordered by a medical professional.

Search by Gene

Filter results by:

Gene: MEN1

Associated Phenotype/Condition: Multiple Endocrine Neoplasia Type 1

  • A syndrome associated with tumors of the endocrine (hormone-producing) glands, particularly impacting the islet cells of pancreas, pituitary and parathyroid.

Resources:

An important note: It is important to remember that even if you are not contacted by the biobank, it does not mean that you don’t have a genetic variant that may increase risk for certain conditions. The biobank genetic tests do NOT look for all genetic variations in all genes. There are also many other genes linked to diseases like cancer and heart disease that the biobank does not test for. If you are concerned about your or your family’s health history, you should talk to your doctor about a more complete genetic test or evaluation. The biobank genetic test is not as complete as genetic tests ordered by a medical professional.

Gene: MLH1

Associated Phenotype/Condition: Lynch Syndrome

  • A syndrome characterized by an increased risk of many types of cancers, particularly colon and uterine cancer.

Resources:

 

An important note: It is important to remember that even if you are not contacted by the biobank, it does not mean that you don’t have a genetic variant that may increase risk for certain conditions. The biobank genetic tests do NOT look for all genetic variations in all genes. There are also many other genes linked to diseases like cancer and heart disease that the biobank does not test for. If you are concerned about your or your family’s health history, you should talk to your doctor about a more complete genetic test or evaluation. The biobank genetic test is not as complete as genetic tests ordered by a medical professional.

 

Gene: MSH2

Associated Phenotype/Condition: Lynch Syndrome

  • A syndrome characterized by an increased risk of many types of cancers, particularly colon and uterine cancer.

Resources:

 

An important note: It is important to remember that even if you are not contacted by the biobank, it does not mean that you don’t have a genetic variant that may increase risk for certain conditions. The biobank genetic tests do NOT look for all genetic variations in all genes. There are also many other genes linked to diseases like cancer and heart disease that the biobank does not test for. If you are concerned about your or your family’s health history, you should talk to your doctor about a more complete genetic test or evaluation. The biobank genetic test is not as complete as genetic tests ordered by a medical professional.

 

Gene: MSH6

Associated Phenotype/Condition: Lynch Syndrome

  • A syndrome characterized by an increased risk of many types of cancers, particularly colon and uterine cancer.

Resources:

 

An important note: It is important to remember that even if you are not contacted by the biobank, it does not mean that you don’t have a genetic variant that may increase risk for certain conditions. The biobank genetic tests do NOT look for all genetic variations in all genes. There are also many other genes linked to diseases like cancer and heart disease that the biobank does not test for. If you are concerned about your or your family’s health history, you should talk to your doctor about a more complete genetic test or evaluation. The biobank genetic test is not as complete as genetic tests ordered by a medical professional.

 

Gene: MUTYH

Associated Phenotype/Condition: MYH-Associated Polyposis (MAP) (autosomal recessive)

  • A disorder characterized by an increased risk for colon polyps and colon cancer.

Resources:

An important note: It is important to remember that even if you are not contacted by the biobank, it does not mean that you don’t have a genetic variant that may increase risk for certain conditions. The biobank genetic tests do NOT look for all genetic variations in all genes. There are also many other genes linked to diseases like cancer and heart disease that the biobank does not test for. If you are concerned about your or your family’s health history, you should talk to your doctor about a more complete genetic test or evaluation. The biobank genetic test is not as complete as genetic tests ordered by a medical professional.

Gene: MYBPC3

Associated Phenotype/Condition: Hypertrophic cardiomyopathy

  • A disease of the heart muscle characterized by a thickening of heart muscle that can lead to an abnormal heart rhythm (arrhythmia), heart failure and other cardiac complications.

Resources:

 

An important note: It is important to remember that even if you are not contacted by the biobank, it does not mean that you don’t have a genetic variant that may increase risk for certain conditions. The biobank genetic tests do NOT look for all genetic variations in all genes. There are also many other genes linked to diseases like cancer and heart disease that the biobank does not test for. If you are concerned about your or your family’s health history, you should talk to your doctor about a more complete genetic test or evaluation. The biobank genetic test is not as complete as genetic tests ordered by a medical professional.

Gene: MYH11

Associated Phenotype/Condition: Aortopathies (Marfan Syndrome, Loeys- Dietz Syndromes, and Familial Thoracic Aortic Aneurysms and Dissections)

  • Disorders characterized by the enlargement of the aorta which increases risk of aneurysm/ dissection and can include other health issues such as lens dislocation of the eye (Marfan syndrome) or aneurysms/ dissections of other arteries (Loeys Dietz syndrome).

Resources:

 

An important note: It is important to remember that even if you are not contacted by the biobank, it does not mean that you don’t have a genetic variant that may increase risk for certain conditions. The biobank genetic tests do NOT look for all genetic variations in all genes. There are also many other genes linked to diseases like cancer and heart disease that the biobank does not test for. If you are concerned about your or your family’s health history, you should talk to your doctor about a more complete genetic test or evaluation. The biobank genetic test is not as complete as genetic tests ordered by a medical professional.

Gene: MYH7

Associated Phenotype/Condition: Hypertrophic cardiomyopathy

  • A disease of the heart muscle characterized by a thickening of heart muscle that can lead to an abnormal heart rhythm (arrhythmia), heart failure and other cardiac complications.

Resources:

 

An important note: It is important to remember that even if you are not contacted by the biobank, it does not mean that you don’t have a genetic variant that may increase risk for certain conditions. The biobank genetic tests do NOT look for all genetic variations in all genes. There are also many other genes linked to diseases like cancer and heart disease that the biobank does not test for. If you are concerned about your or your family’s health history, you should talk to your doctor about a more complete genetic test or evaluation. The biobank genetic test is not as complete as genetic tests ordered by a medical professional.

Gene: MYL2

Associated Phenotype/Condition: Hypertrophic cardiomyopathy

  • A disease of the heart muscle characterized by a thickening of heart muscle that can lead to an abnormal heart rhythm (arrhythmia), heart failure and other cardiac complications.

Resources:

 

An important note: It is important to remember that even if you are not contacted by the biobank, it does not mean that you don’t have a genetic variant that may increase risk for certain conditions. The biobank genetic tests do NOT look for all genetic variations in all genes. There are also many other genes linked to diseases like cancer and heart disease that the biobank does not test for. If you are concerned about your or your family’s health history, you should talk to your doctor about a more complete genetic test or evaluation. The biobank genetic test is not as complete as genetic tests ordered by a medical professional.

 

Gene: MYL3

Associated Phenotype/Condition: Hypertrophic cardiomyopathy

  • A disease of the heart muscle characterized by a thickening of heart muscle that can lead to an abnormal heart rhythm (arrhythmia), heart failure and other cardiac complications.

Resources:

 

An important note: It is important to remember that even if you are not contacted by the biobank, it does not mean that you don’t have a genetic variant that may increase risk for certain conditions. The biobank genetic tests do NOT look for all genetic variations in all genes. There are also many other genes linked to diseases like cancer and heart disease that the biobank does not test for. If you are concerned about your or your family’s health history, you should talk to your doctor about a more complete genetic test or evaluation. The biobank genetic test is not as complete as genetic tests ordered by a medical professional.

Gene: NF2

Associated Phenotype/Condition: Neurofibromatosis type 2

  • A disorder most commonly associated with noncancerous tumors in the nervous system. These growths usually develop along the nerve from the inner ear to the brain and can lead to hearing loss.

Resources:

 

An important note: It is important to remember that even if you are not contacted by the biobank, it does not mean that you don’t have a genetic variant that may increase risk for certain conditions. The biobank genetic tests do NOT look for all genetic variations in all genes. There are also many other genes linked to diseases like cancer and heart disease that the biobank does not test for. If you are concerned about your or your family’s health history, you should talk to your doctor about a more complete genetic test or evaluation. The biobank genetic test is not as complete as genetic tests ordered by a medical professional.

Gene: NUDT15

When you take a medicine (or drug), your body needs to find a way to use it.  Some proteins in your body break down (or metabolize) medicines.  Breaking down a medicine can make it more active or less active, based on what kind of medicine you are taking.  If your body breaks down a medicine too quickly or too slowly, this may make the medicine not work as well.  It may also cause a side effect.

The NUDT15 gene gives instructions to your body to make a protein.  It is the job of the NUDT15 protein to break down certain medicines.  These medicines include thiopurines and are used in the treatment of cancer, inflammatory bowel disease, and other conditions.  Examples of these medicines are: 

  • Azathioprine
  • Mercaptopurine
  • Thioguanine

By testing your DNA, we can find DNA differences.  This can help us to see how well the proteins in your body work to break down certain medicines. 

The results of your NUDT15 gene test put you into 1 of 3 groups:

  • Normal metabolizer: People in this group are likely to have normal working NUDT15 proteins.
  • Intermediate metabolizer: People in this group may have reduced activity of NUDT15 proteins. 
  • Poor metabolizer: People in this group may have very little or no active NUDT15 protein. 

The results of this test can help your doctor choose the right medicine and dose for you. 

An important note: Do not stop using or change any of your medicines before speaking with your doctor. The information you get through this website is not meant to be medical advice. The information you get through this website will include genetic test results only. If you need medical help, please get care at a health care facility. Contact your doctor about any genetic test results that you get from the biobank.

Gene: OTC

Associated Phenotype/Condition: Ornithine transcarbamylase deficiency (X-linked)

  • A disorder that causes ammonia to accumulate in the blood. This can cause developmental delay, intellectual impairment, altered mental status, and liver damage. This condition can occur at any age, with the late-onset type occurring in both males and females.

Resources:

 

An important note: It is important to remember that even if you are not contacted by the biobank, it does not mean that you don’t have a genetic variant that may increase risk for certain conditions. The biobank genetic tests do NOT look for all genetic variations in all genes. There are also many other genes linked to diseases like cancer and heart disease that the biobank does not test for. If you are concerned about your or your family’s health history, you should talk to your doctor about a more complete genetic test or evaluation. The biobank genetic test is not as complete as genetic tests ordered by a medical professional.

Gene: PALB2

Associated Phenotype/Condition: Hereditary Breast and Ovarian Cancer

  • An increased risk for the development of breast, ovarian, pancreatic and other cancers.

Resources:

 

An important note: It is important to remember that even if you are not contacted by the biobank, it does not mean that you don’t have a genetic variant that may increase risk for certain conditions. The biobank genetic tests do NOT look for all genetic variations in all genes. There are also many other genes linked to diseases like cancer and heart disease that the biobank does not test for. If you are concerned about your or your family’s health history, you should talk to your doctor about a more complete genetic test or evaluation. The biobank genetic test is not as complete as genetic tests ordered by a medical professional.

Gene: PCSK9

Associated Phenotype/Condition: Familial hypercholesterolemia

  • Increased risk for high cholesterol.

Resources:

 

An important note: It is important to remember that even if you are not contacted by the biobank, it does not mean that you don’t have a genetic variant that may increase risk for certain conditions. The biobank genetic tests do NOT look for all genetic variations in all genes. There are also many other genes linked to diseases like cancer and heart disease that the biobank does not test for. If you are concerned about your or your family’s health history, you should talk to your doctor about a more complete genetic test or evaluation. The biobank genetic test is not as complete as genetic tests ordered by a medical professional.

 

Gene: PKP2

Associated Phenotype/Condition: Arrhythmogenic right ventricular cardiomyopathy (ARVC)

  • A disease of the heart muscle that can lead to an abnormal heart rhythm (arrhythmia), heart failure and other cardiac complications such as sudden death.

Resources:

 

An important note: It is important to remember that even if you are not contacted by the biobank, it does not mean that you don’t have a genetic variant that may increase risk for certain conditions. The biobank genetic tests do NOT look for all genetic variations in all genes. There are also many other genes linked to diseases like cancer and heart disease that the biobank does not test for. If you are concerned about your or your family’s health history, you should talk to your doctor about a more complete genetic test or evaluation. The biobank genetic test is not as complete as genetic tests ordered by a medical professional.

Gene: PLN

Associated Phenotype/Condition: Hypertrophic cardiomyopathy

  • A disease of the heart muscle characterized by a thickening of heart muscle that can lead to an abnormal heart rhythm (arrhythmia), heart failure and other cardiac complications.

Resources:

 

An important note: It is important to remember that even if you are not contacted by the biobank, it does not mean that you don’t have a genetic variant that may increase risk for certain conditions. The biobank genetic tests do NOT look for all genetic variations in all genes. There are also many other genes linked to diseases like cancer and heart disease that the biobank does not test for. If you are concerned about your or your family’s health history, you should talk to your doctor about a more complete genetic test or evaluation. The biobank genetic test is not as complete as genetic tests ordered by a medical professional.

Gene: PMS2

Associated Phenotype/Condition: Lynch Syndrome

  • A syndrome characterized by an increased risk of many types of cancers, particularly colon and uterine cancer.

Resources:

 

An important note: It is important to remember that even if you are not contacted by the biobank, it does not mean that you don’t have a genetic variant that may increase risk for certain conditions. The biobank genetic tests do NOT look for all genetic variations in all genes. There are also many other genes linked to diseases like cancer and heart disease that the biobank does not test for. If you are concerned about your or your family’s health history, you should talk to your doctor about a more complete genetic test or evaluation. The biobank genetic test is not as complete as genetic tests ordered by a medical professional.

 

Gene: PRKAG2

Associated Phenotype/Condition: Hypertrophic cardiomyopathy

  • A disease of the heart muscle characterized by a thickening of heart muscle that can lead to an abnormal heart rhythm (arrhythmia), heart failure and other cardiac complications.

Resources:

 

An important note: It is important to remember that even if you are not contacted by the biobank, it does not mean that you don’t have a genetic variant that may increase risk for certain conditions. The biobank genetic tests do NOT look for all genetic variations in all genes. There are also many other genes linked to diseases like cancer and heart disease that the biobank does not test for. If you are concerned about your or your family’s health history, you should talk to your doctor about a more complete genetic test or evaluation. The biobank genetic test is not as complete as genetic tests ordered by a medical professional.

 

Gene: PTEN

Associated Phenotype/Condition: PTEN Hamartoma Tumor Syndrome

  • A disorder that causes a high risk for the development of benign and malignant tumors of the thyroid, breast, colon, and uterus.

Resources:

An important note: It is important to remember that even if you are not contacted by the biobank, it does not mean that you don’t have a genetic variant that may increase risk for certain conditions. The biobank genetic tests do NOT look for all genetic variations in all genes. There are also many other genes linked to diseases like cancer and heart disease that the biobank does not test for. If you are concerned about your or your family’s health history, you should talk to your doctor about a more complete genetic test or evaluation. The biobank genetic test is not as complete as genetic tests ordered by a medical professional.

Showing 41 - 60 of 94 results
CCPM logo

Colorado Center for Personalized Medicine

CU Anschutz

Anschutz Health Sciences Building

1890 N Revere Ct

Mailstop F563

Aurora, CO 80045

Quick Links
Contact Us
Study Title
COMIRB#
CMS Login