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Genetic Conditions
Genotype Diagnostics



New discoveries occur rapidly in the area of human genetics. Our scientists monitor and carefully evaluate new information published in scientific journals and add new disease-associated variants to our tests as appropriate.



Blood/Lymphatic System

The circulatory and lymphatic systems are the body's transport system. They carry nutrients and other important molecules to cells, and carry away waste. The body is more susceptible to illness and infection when these systems do not function properly.

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Bones, Muscles,
and Connective Tissues

Connective tissue is a broad term for supportive tissues that provide the body’s framework. Connective tissues include bones, muscles, cartilage, and tendons. There are a number of disorders that are caused by defects in genes important for the formation and function of connective tissue.

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Brain and Nervous System

The brain and nervous system form a complex network of signals that carry information (in the form of electrical impulses) to and from the body. Several disorders that directly affect the nervous system have a genetic component.

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Cancers

Cancer is a condition in which abnormal cells divide without control. Cancer cells can invade nearby tissues and can spread through the bloodstream and lymphatic system to other parts of the body. There are many types of cancer that affect various parts of the body.

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Digestive System

Digestion is the process of breaking down food and using nutrients for energy and maintenance of the body. Some digestive diseases are hereditary.

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Ear, Nose, and Throat

The structures of the ear, nose, and throat are complex and interrelated. They allow a person to make sound, hear, maintain balance, smell, breathe, and swallow. Several genetic conditions can occur when the genes controlling the construction or operation of these structures do not function normally.

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Endocrine System
(Hormones)

The endocrine system is a complex collection of hormone-producing glands that control basic body functions such as growth and sexual development. Advances in molecular genetics have led to a deeper understanding of the mechanisms involved in hereditary endocrine disorders.

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Eyes and Vision

With the recent advances in molecular genetic techniques, new genes that cause eye disease are being identified. In many instances, these findings allow researchers to develop innovative strategies to prevent or slow the progress of genetic eye diseases.

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Heart and Circulation

The circulation system is composed of the heart, blood vessels (arteries, veins, and capillaries), and blood. The circulatory system delivers oxygen and nutrients to cells and carries away waste. Altered genes may disrupt the development or function of the circulatory system.

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Immune System

The immune system identifies and kills invaders such as bacteria and viruses. If genes associated with the immune system do not work properly, the body may not be able to defend itself against invaders, or the immune system may mistakenly attack the body's own cells.

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Kidneys and Urinary System

The kidneys are responsible for removing wastes from the body, regulating blood pressure, and stimulating the production of red blood cells. Some disorders of the kidneys and urinary system have a genetic component.

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Lungs and Breathing

The lungs are the largest part of the respiratory system, which delivers oxygen to the body and removes carbon dioxide waste. Some lung conditions are caused by abnormal gene function.

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Mental Health and Behavior

Altered genes or chromosomes may lead to conditions that impair a person's ability to think, remember, learn, or react to other people and the environment.

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Mouth and Teeth

The mouth and teeth allow a person to chew, swallow, breathe, and speak. Disorders can occur when the genes controlling the development or function of these structures are altered.

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Nutrition and Metabolism

Metabolism is the total of all chemical changes that take place in a cell or an organism. These changes produce energy and basic materials needed for important life processes. Some disorders of metabolism have a strong genetic component.

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Reproductive System

Genetic changes may alter the structure or function of the reproductive system in males or females. These changes may impair fertility, or the ability to conceive a child.

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Skin, Hair, and Nails

The skin is the largest organ in the body. A sizeable number of genetic disorders affect the skin, hair, and nails.

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The information in this page is primarily for reference and education. It is not intended to be a substitute for the advice of a physician. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional.


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Updated August 2, 2010. All Rights Reserved.