Medical Genetics

Specialists in common and rare genetic conditions to help you take control of your future

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When it comes to genetics, knowledge is powerful.

Knowledge You Can use

Our geneticists and genetic counselors provide clear, accurate information that empowers you and your family to make evidence-based healthcare decisions in line with your values.

A Continuum of Care

Our nationally and internationally recognized physicians specialize in a wide range of common and rare genetic conditions in adults and children.

Unmatched Expertise

Our medical genetics department is a national leader in quality of care, scope of services, innovative research and academic reputation.

Featured Provider

Meet the provider: Edith Cheng, M.D.

Dr. Cheng is a board-certified maternal-fetal medicine physician and medical geneticist whose interests include prenatal diagnosis, genetic conditions and genetic counseling. View full bio.

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Some of our common services:

Many cardiac conditions have a genetic basis. Our specialists in the fast-growing field of cardiovascular genetics can effectively screen patients for hereditary diseases of the heart and connective tissue disorders affecting blood vessels. We offer the most current genetic testing, genetic counseling and personalized medicine for patients with familial cardiac diseases.

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This is an inherited type of arrhythmia, which means irregular heartbeat. There are different types of genetic arrhythmias, but most have similar symptoms, which include dizziness, fainting and heart palpitations during exercise or stress. Our specialists can accurately diagnose this condition and refer you to other specialists for further care if necessary.

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This congenital heart defect causes the heart muscle to lose the ability to pump blood well over time. We can effectively diagnose this condition, help identify your risk of passing it on to your children and provide supportive genetic counseling.

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Certain genetic disorders and gene mutations can increase the risk of various types of cancer. Our geneticists can accurately identify these gene mutations and underlying disorders and provide in-depth counseling on your risk of developing specific cancers, including breast, ovarian and colon cancer, based on your genetic results.

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This genetic disorder is characterized primarily by multiple benign growths, called hamartomas, on various parts of the body. People with Cowden syndrome are also more likely to develop certain types of cancers, such as breast, thyroid and endometrial.

A number of gene mutations can contribute to a person’s risk of developing certain cancers, including breast, ovarian, colorectal, kidney, thyroid, pancreatic, prostate and others. If you have a family history of cancer or would like to find out whether you're at increased risk, we offer genetic testing and counseling for many types of hereditary cancers.

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This rare genetic disorder is caused by a mutation in a tumor suppressing gene. It greatly increases the risk of developing certain types of cancer, including breast, bone and soft tissue cancers. Our medical geneticists can evaluate whether you or a family member has this disorder or is at risk for passing it on.

This inherited disorder is characterized by tumors and cysts that can develop throughout the body. Although typically non-cancerous, these growths can cause serious or life-threatening complications. People with this disorder are also at greater risk for developing certain types of kidney and pancreatic cancer. Our geneticists can determine whether you have this condition or at risk for passing it on.

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A chromosomal disorder occurs when a child is born with a missing, extra or irregular chromosome, the threadlike structure inside cells that carries genetic information. Most chromosomal disorders aren't passed from one generation to the next. But because they affect genes, our specialists can diagnose them using specialized tests.

This is a chromosomal condition in which a male is born with an extra copy of the X chromosome. It affects physical and cognitive development, with symptoms that include slow motor development, weak muscles, lower production of testosterone and infertility. Our genetic specialists can diagnose this condition with hormone testing and chromosomal analysis.

This chromosomal condition affects development in females, with symptoms that can include short stature, loss of ovarian function, heart defects and developmental delays. It's caused by a missing or structurally altered X chromosome. Our specialists are experts at identifying this condition with hormone testing and chromosomal analysis.

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Hereditary connective tissue disorders are caused by mutations in genes responsible for building connective tissue. People with these disorders might have problems with the development, appearance or function of skin, bones, joints, heart, blood vessels, lungs, eyes and ears.

This is a group of inherited connective tissue disorders that is characterized by joint hypermobility, skin hyperextensibility and tissue fragility. If you have one of these disorders, you might experience early onset osteoarthritis, severe bruising or slow wound healing. Our specialists can accurately test for this syndrome and its related disorders and counsel you and your family members on the results.

An aortic aneurysm is an abnormal bulge in the wall of the aorta that's at risk for bursting. People with connective tissue disorders are at greater risk for developing aortic aneurysms. In addition, all types of aneurysms have a genetic component. Our specialists can assess your risk of developing an aneurysm based on family history and genetic testing.

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This syndrome is primarily characterized by aortic aneurysms (weakened bulges in the aorta) in children. If not diagnosed and treated early, the condition can be fatal. Our genetic specialists can identify Loeys-Dietz syndrome and refer you or your child to other specialists for advanced imaging and surgical treatment if necessary.

This inherited disorder of the connective tissue most commonly affects the heart, eyes, blood vessels and bones. If the disorder affects the aorta, it can be life-threatening. People with Marfan syndrome are usually tall and thin with disproportionately long limbs. Our specialists can diagnose Marfan syndrome based on signs, family history and genetic testing.

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This genetic bone disorder, also called brittle bone disease, is characterized by fragile bones that break easily. Our specialists can accurately identify osteogenesis imperfecta based on family history, a physical exam, advanced imaging and a genetic test.

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Many types of eye disorders are caused by genetic factors, including those that result in vision loss in children and adults. We can accurately diagnose a wide range of genetic eye diseases, predict the severity of a disease and help you understand your risk of developing one or passing one on to your children.

This is a group of mostly rare, inherited disorders caused by gene mutations that affect certain aspects of your body's metabolism — the chemical process that sustains life. They can affect organs or entire body systems. Our genetic specialists are highly trained in diagnosing metabolic disorders and can accurately predict your risk of developing one or passing it to your children.

This inherited disorder, which affects only men, results from the buildup of a certain type of fat in the body's cells. It can be life-threatening if it compromises the heart and kidneys. Whether you have Fabry disease or it runs in your family, our skilled medical geneticists can accurately diagnose it or identify your risk of developing it or passing it on.

This rare genetic disorder is caused by a missing enzyme that breaks down fatty substances called lipids. As a result, lipids build up in certain organs. This condition can affect your spleen, liver, lungs, brain, eyes and bones. Our specialists can accurately diagnose this disease, or determine your or your children's risk of developing it.

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This group of inherited conditions results from malfunctioning mitochondria — the cellular structure responsible for making energy. If you have mitochondrial disease, our specialists can accurately pinpoint it using the latest genetic testing. If it runs in your family, we can let you know your risk of developing it or passing it along to your children.

This genetic condition results from the buildup of a complex sugar called glycogen in the body's cells. As glycogen builds up in certain organs, tissues and muscles, they can no longer function normally. Using the latest genetic testing, our specialists can diagnose this condition or pinpoint your risk of developing it or passing it on.

Gene mutations can cause a wide variety of hereditary skin conditions ranging from mild to disfiguring. Our genetic specialists are experts at diagnosing common and rare inherited skin disorders based on clinical exams, family history and genetic testing.

This is a group of rare inherited skin diseases that cause fragile, blistering skin in response to minor injury or friction. If you think you have this disorder or if it runs in your family, our specialists can diagnose it or determine whether you're at risk for passing it on.

This is a family of genetic skin disorders characterized by thick, dry scales on the surface of your skin. The disease, which slows your skin's natural shedding process, can be mild or severe and disfiguring. Our specialists can accurately identify this condition, which is sometimes mistaken for other things, through a comprehensive exam and genetic testing.

This rare inherited disorder affects the skin and other body systems. It is characterized by a blistering rash at birth than evolves into wart-like growths and is accompanied by gray and brown patches in a swirling pattern. Our geneticists can diagnose this condition by identifying markers and with genetic testing.

Sometimes children are born with a number of different congenital defects. Successfully managing multiple genetic problems often requires a team of skilled specialists. Our geneticists contribute in-depth knowledge about many common and rare inherited conditions that can help family members and caregivers make the best possible decisions about a child's medical, psychosocial and developmental care.

This is a broad term for inherited conditions caused by gene mutations that affect the brain, spinal cord or peripheral nerves. There are many types of neurogenetic conditions, and they can cause a wide range of symptoms. These include delays in physical and emotional development, muscle and movement problems, vision and hearing problems and epilepsy.

Autism is a complex disorder that affects the nervous system, as well as growth and development in childhood. Researchers don't know all the causes of autism but have identified genetic variants that are known risk factors for the condition. Our genetic testing can reveal whether you or your child has these genetic mutations.

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In this inherited disease, the walls of blood vessels within the brain become too thick, blocking blood flow to the brain. The disease is characterized by migraine headaches and multiple strokes, which can lead to dementia. CADASIL is caused by a gene mutation, which our specialists can accurately identify using genetic testing.

This genetic disorder, which is also called hereditary motor and sensory neuropathy, causes nerve damage, most often in the arms and legs. Symptoms include weaker muscles, trouble walking and foot deformities. Our specialists can diagnose this condition by taking a thorough family history and performing a neurological exam and genetic testing.

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Also called Lou Gehrig's disease, ALS (amyotrophic lateral sclerosis) is a fatal type of motor neuron disease characterized by progressive degeneration of nerve cells in the brain and spinal cord. It eventually causes trouble breathing and swallowing, and paralysis. There are two main types of ALS, one of which is inherited. Our specialists can diagnose this disease with clinical and genetic tests.

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Alzheimer's is a degenerative disease of the brain that causes gradual loss of memory, judgment and the ability to function socially. It eventually results in dementia. About 25 percent of cases of Alzheimer's are inherited. Our specialists can diagnose this disease using a neurological exam, family history and genetic testing.

Ataxia is a group of inherited neurological disorders that cause degeneration in the cerebellum, the part of the brain responsible for coordinating movement. Complications are serious and can be debilitating and life-shortening. Our specialists can diagnose ataxia using a combination of clinical tests, family history and genetic testing.

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This is a fatal genetic disorder that causes the loss of brain cells, leading to symptoms such as uncontrolled movements, emotional problems and loss of thinking ability. If you have Huntington's disease, your children have a 50 percent chance of inheriting it. Our geneticists can accurately diagnose and help you understand this condition.

Epilepsy is a group of related disorders in which nerve cell activity in the brain becomes disturbed, causing seizures. Certain types of epilepsy are inherited. Our genetic specialists can determine whether you or your child has hereditary epilepsy, as well as your risk for passing it on.

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This is a group of more than 30 inherited diseases that result in progressive degeneration and weakening of skeletal muscles over time. The symptoms of muscular dystrophy can often be managed, but it is usually life-shortening. The condition is caused by a gene mutation, which our genetic specialists can identify with an accurate test.

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This is a group of three genetic disorders of the nervous system. Depending on which type you have — NF1, NF2, or schwannomatosis — you might experience symptoms such as light skin patches, tumors, hearing loss or nerve pain. Our genetic specialists can help diagnose these disorders using a combination of genetic testing, advanced imaging and a clinical exam.

This genetic disorder, which causes tumors to form in many different organs, varies in severity from person to person. The most serious cases can result in seizures, developmental delay, intellectual disability and autism. Our geneticists are highly skilled at pinpointing this condition, helping you understand it and determining your risk of passing it on.

We offer the most advanced genetic testing available, including comprehensive gene panels and exome and genome sequencing, as well as in-depth genetic counseling. We can diagnose and educate you about your genetic disease, predict how severe it might be, counsel you on your risk of developing an inherited disease or passing one on and screen newborns for genetic conditions.

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