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: RB1

Associated Phenotype/Condition: Retinoblastoma

  • An eye cancer that begins in the back of the eye (retina) in children.

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: RET

Associated Phenotype/Condition: Familial Medullary Thyroid Cancer

  • A syndrome associated with a high risk of developing medullary thyroid 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: RMB20

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: RPE65

Associated Phenotype/Condition: RPE65-related retinopathy (autosomal recessive)

  • Disease of the retina of the eye that starts at birth/ early childhood leading to loss of vision.

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: RYR1

Associated Phenotype/Condition: Malignant hyperthermia susceptibility

  • A rare life-threatening condition that is usually triggered by exposure to certain drugs used for general anesthesia.

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: RYR2

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: SCN5A

Associated Phenotype/Condition: Long QT Syndromes Types 1, 2, and 3, Brugada Syndrome

  • Conditions characterized by abnormal heart rhythm (arrhythmia) that can cause fainting, seizures, 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: SDHAF2

Associated Phenotype/Condition: Hereditary Paraganglioma- Pheochromocytoma Syndrome

  • Syndromes characterized by the growth of paragangliomas and pheochromocytomas (paragangliomas in the adrenal glands) which are tumors that come from neuroendocrine tissues that control blood pressure.

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: SDHB

Associated Phenotype/Condition: Hereditary Paraganglioma- Pheochromocytoma Syndrome

  • Syndromes characterized by the growth of paragangliomas and pheochromocytomas (paragangliomas in the adrenal glands) which are tumors that come from neuroendocrine tissues that control blood pressure.

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: SDHC

Associated Phenotype/Condition: Hereditary Paraganglioma- Pheochromocytoma Syndrome

  • Syndromes characterized by the growth of paragangliomas and pheochromocytomas (paragangliomas in the adrenal glands) which are tumors that come from neuroendocrine tissues that control blood pressure.

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: SDHD

Associated Phenotype/Condition: Hereditary Paraganglioma- Pheochromocytoma Syndrome

  • Syndromes characterized by the growth of paragangliomas and pheochromocytomas (paragangliomas in the adrenal glands) which are tumors that come from neuroendocrine tissues that control blood pressure.

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: SLCO1B1

When you take a medicine (or drug), your body needs to find a way to use it.  Some proteins in your body carry (transport) medicines so that they can be used.  If your body can’t carry a medicine to the right place, this may make the medicine not work as well.  It may also cause a side effect.

The SLCO1B1 gene gives instructions to your body to make a protein.  The SLCO1B1 protein helps carry certain medicines so your body can use them.  These medicines include:

  • Statins – used to lower cholesterol

These are the medicines that we know of right now that are impacted by SLCO1B1 gene test results.  Medical experts keep on finding new data about which new 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 carry certain medicines. 

The results of your SLCO1B1 gene test will put you into 1 of 3 groups:

  • Normal function: People in this group are likely to have normal working SLCO1B1 proteins.  55-88% of people have SLCO1B1 normal function.
  • Decreased function: People in this group may have reduced function of SLCO1B1 proteins.  11-36% of patients have SLCO1B1 decreased function.
  • Poor function: People in the group may have very little or no active SLCO1B1 protein.  0-6% of patients have SLCO1B1 poor function.

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: SMAD3

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: SMAD4

Associated Phenotype/Condition: Juvenile Polyposis Syndrome

  • A disorder characterized by the development of noncancerous (benign) polyps, specifically in the gastrointestinal tract, before the age of twenty.

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: STK11

Associated Phenotype/Condition: Peutz-Jeghers Syndrome

  • A syndrome that causes the development of noncancerous growths, called hamartomatous polyps, in the gastrointestinal tract (stomach and intestines).

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: TGFBR1

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: TGFBR2

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: TMEM127

Associated Phenotype/Condition: Hereditary Paraganglioma- Pheochromocytoma Syndrome

  • Syndromes characterized by the growth of paragangliomas and pheochromocytomas (paragangliomas in the adrenal glands) which are tumors that come from neuroendocrine tissues that control blood pressure.

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: TMEM43

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: TNNC1

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.

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