Genetic Diseases

By using information about your genes, it is sometimes possible to predict if you are at risk of developing certain health problems. In some circumstances, we can also check how certain drugs may affect your health. In this section, you can learn more about genetic tests and how they might impact your healthcare.

We have compiled a list of disease and drugs for which genetic testing is possible. Which you can review on the left menu (or above):

Diseases for which testing may be available

Arrhythmogenic Right Ventricular Dysplasia / Cardiomyopathy (ARVD) is a type of heart disease that affects the muscles in the wall of the heart (the myocardium).

Breast Cancer is a disease that causes the breast to become abnormal, where cells grow without control to form a tumor.

Brugada Syndrome is a rare heart condition, where the rhythm of the heart is not normal. Specifically, the cardiac muscle of the ventricles in the heart are not coordinated.

Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) is a heart disorder, where the main features are abnormal heart rhythms, causing a person to faint.

Ehlers-Danlos Syndrome (EDS) is a rare genetic disease caused by damage to a protein called collagen.

Fabry Disease is a rare inherited disease caused by changes to a gene called GLA. GLA is involved in breaking-down fatty substances (called globotriaosylceramide) in your cells.

Familial Adenomatous Polyposis (FAP) is an inherited disease where a hundred or more small growths called polyps form on the large intestine. Untreated, it eventually leads to colon cancer.

Familial Dilated Cardiomyopathy (FDC) is a condition that affects the muscles of the heart - notably the left ventricle, which is most responsible for pumping blood.

Familial Hypercholesterolemia (FH) is a genetic disease marked by very high cholesterol levels (particularly LDL cholesterol), which can thicken the arteries, which in turn greatly increases the risk of cardiovascular disease.

Familial Hypertrophic Cardiomyopathy (HCM) is an inherited condition where the heart muscle thickens and can disrupt blood flow from the heart. This thickening is most common in the interventricular septum, the muscle wall that separates the left ventricle of the heart from the right.

Familial Medullary Thyroid Carcinoma (FMTC) is one of a group of disorders that affect the endocrine system - a network of glands in the body involved in making hormones. FMTC is part of a larger group of disorders called Multiple Endocrine Neoplasia Type 2 (MEN2).

Familial Thoracic Aortic Aneurysm and Dissection (FTAAD) : A thoracic aortic aneurysm happens when the aorta in area of the chest called the thoracic cavity become too large.

Hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndrome Hereditary paraganglioma-pheochromocytoma syndrome

Juvenile Polyposis Syndrome (JPS) is a rare disorder that affects up to 1 in 16,000 people. The main features of JPS are small growths called 'juvenile polyps', which are most often found in the digestive system. These growths, or polyps, are not signs of cancer, but they are associated with an increased risk of developing cancer.

Li-Fraumeni Syndrome (LFS) is an inherited condition, where individuals are much more likely to develop certain types of cancer, and to develop them at a younger age than is usual.

Loeys-Dietz Syndrome (LDS) is a rare genetic disease that affects connective tissue in many parts of the body, especially the heart.

Lynch Syndrome (LS) is an inherited condition where individuals are likely to develop certain types of cancer, and to develop them at a younger age than is usual.

Malignant Hyperthermia is a severe reaction to particular drugs that are often used during surgery and other invasive procedures. Specifically, this reaction occurs in response to some anesthetic gases, which are used to block the sensation of pain, and with a muscle relaxant that is used to temporarily paralyze a person during a surgical procedure.

Marfan Syndrome is a disorder that affects the connective tissue in many parts of the body. Connective tissue provides strength and flexibility to structures such as bones, ligaments, muscles, blood vessels, and heart valves. The signs and symptoms of Marfan syndrome vary widely in severity, timing of onset, and rate of progression.

Multiple Endocrine Neoplasia Type 1 (MEN1) is a group of rare genetic disorders that mostly affects the system in the body responsible for producing hormones - the endocrine system.

Multiple Endocrine Neoplasia Type 2 (MEN2) is a rare genetic disorder that affects the endocrine system.

Neurofibromatosis Type 2 (NF2) is a disorder characterized by the growth of noncancerous tumors in the nervous system. The most common tumors associated with neurofibromatosis type 2 are called vestibular schwannomas or acoustic neuromas.

Ovarian Cancer is a disease that affects women. In this form of cancer, certain cells in the ovary become abnormal and multiply uncontrollably to form a tumor.

Peutz-Jeghers syndrome (PJS) is an inherited condition where individuals are much more likely to develop certain types of cancer, and to develop them at a younger age than is usual.

PTEN Hamartoma Tumor Syndrome The PTEN hamartoma tumor syndrome (PHTS) includes Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), PTEN-related Proteus syndrome (PS), and Proteus-like syndrome.

Retinoblastoma is a rare type of eye cancer that usually develops in early childhood, typically before the age of 5. This form of cancer develops in the retina, which is the specialized light-sensitive tissue at the back of the eye that detects light and color.

Romano-Ward Syndrome is a condition that causes a disruption of the heart's normal rhythm (arrhythmia). This disorder is a form of long QT syndrome, which is a heart condition that causes the heart (cardiac) muscle to take longer than usual to recharge between beats.

Tuberous Sclerosis Complex (TSC) is a genetic disorder characterized by the growth of numerous noncancerous (benign) tumors in many parts of the body.

Von Hippel-Lindau (VHL) Syndrome is a genetic disorder in which small tumors and cysts appear in different parts of the body.

WT1-related Wilms tumor is a form of kidney cancer that primarily develops in children.