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

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Gene: TNNI3

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: TNNT2

Associated Phenotype/Condition: Dilated cardiomyopathy

  • A disease of the heart muscle characterized by an enlargement (dilation) of the heart 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: TP53

Associated Phenotype/Condition: Li-Fraumeni Syndrome

  • A rare disorder that greatly increases the risk of developing several types of cancer, particularly in children and young adults.

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: TPM1

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: TPMT

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 TPMT gene gives instructions to your body to make a protein.  It is the job of the TPMT 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

These are the medicines that we know of right now that are impacted by TPMT gene test results.  Medical experts keep finding new data about which medicines are affected by gene test results.

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 TPMT gene test put you into 1 of 3 groups:

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

Associated Phenotype/Condition: Catecholaminergic polymorphic ventricular tachycardia (CPVT)

  • A condition characterized by an abnormal heart rhythm (arrhythmia) where a trigger such as physical activity can lead to an abnormally fast and irregular heartbeat.

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: TSC1

Associated Phenotype/Condition: Tuberous Sclerosis Complex

  • A multisystem disorder characterized by the growth of noncancerous (benign) tumors in many parts of the body, particularly the skin, brain, and kidneys.

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: TSC2

Associated Phenotype/Condition: Tuberous Sclerosis Complex

  • A multisystem disorder characterized by the growth of noncancerous (benign) tumors in many parts of the body, particularly the skin, brain, and kidneys.

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: TTN

Associated Phenotype/Condition: Dilated cardiomyopathy

  • A disease of the heart muscle characterized by an enlargement (dilation) of the heart 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: TTR

Associated Phenotype/Condition: Hereditary TTR amyloidosis

  • A disorder that is caused by a buildup of the protein ‘amyloid’ that leads to multiple health issues including heart disease and neuropathy.

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: UGT1A1

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, depending 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 UGT1A1 gene gives instructions to your body about how to make a protein. It is the job of the UGT1A1 protein to break down certain medicines.  Examples of these medicines include irinotecan and sacituzumab govitecan-hziy, which are used in the treatment of some cancers. 

These are two medicines that we know of right now that is impacted by UGT1A1 gene test results.  Medical experts keep finding new data about which medicines are affected by gene test results.

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 UGT1A1 gene test put you into 1 of 3 groups:

  • Normal metabolizer: People in this group are likely to have normal working UGT1A1 proteins.
  • Intermediate metabolizer: People in this group may have reduced activity of UGT1A1 proteins. 
  • Poor metabolizer: People in this group may have very little or no active UGT1A1 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: VHL

Associated Phenotype/Condition: Von Hippel Lindau Syndrome

  • A syndrome characterized by the formation of tumors and cysts in many parts of the body, including the brain, spinal cord, and retina.

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: VKORC1

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 VKORC1 gene tells your body how to make a protein.  It is the job of the VKORC1 protein to help your body break down certain medicines.  An example of this medicine is warfarin. This medicine is used to treat and prevent blood clots.

This is 1 medicine that we know of right now that is impacted by VKORC1 gene test results.  Medical experts keep finding new data about which medicines are affected by gene test results.

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 VKORC1 gene test put you into 1 of 3 groups:

  • Normal function: People in this group are likely to have normal working VKORC1 proteins.
  • Decreased function: People in this group may have reduced activity of VKORC1 proteins. 
  • Poor function: People in this group may have very little or no active VKORC1 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: WT1

Associated Phenotype/Condition: WT1- related Wilms tumor

  • Increases risk for a specific type of kidney tumor called a Wilms tumor. Typically occurs in childhood.

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.

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