Genetic

Tay-Sachs Genetic Testing

Tay-Sachs Genetic Testing

Tay-Sachs Disease What is Tay-Sachs disease?Tay-Sachs is a very rare disease of the nervous system. Symptoms usually start during infancy or in early childhood, and become progressively worse over time. People with Tay-Sachs have a mutation in a gene that makes an important enzyme called hexosaminidase A (or HEXA for short). This altered gene causes …

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Sickle Cell Genetic Testing

Sickle Cell Genetic Testing

Sickle Cell Disease What is sickle cell disease?Red blood cells are normally round, like a bagel. A genetic change (called a mutation) can make red blood cells more likely to become “sickle” shaped, like a crescent moon. These abnormally shaped cells cause the symptoms and complications of sickle cell disease. Round red blood cells are …

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Phenylketonuria Genetic Testing

Phenylketonuria Genetic Testing

Phenylketonuria What is phenylketonuria (PKU)?Phenylalanine is an amino acid found in protein-rich foods. People with phenylketonuria lack the enzyme needed to break down this amino acid, which leads to a toxic buildup of phenylalanine in their bodies. PKU has both a genetic and an environmental component. While the disease starts with a genetic problem — …

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Huntington's Disease Genetic Testing

Huntington’s Disease Genetic Testing

Huntington’s Disease What is Huntington’s disease?Huntington’s disease is an inherited disease that affects nerve cells in parts of the brain. A progressive disease (meaning it continues to get worse), Huntington’s leads to mental deterioration and the loss of control over the body’s muscle movements. Symptoms usually start in the late 30’s or early 40’s. Some …

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Hereditary Hemochromatosis Genetic Testing

Hereditary Hemochromatosis Genetic Testing

Hereditary Hemochromatosis What is hereditary hemochromatosis?Hereditary hemochromatosis is a genetic disorder in which too much iron builds up in the body. The body extracts iron from foods. If you absorb more of this mineral than you get rid of, iron builds up in the tissues and organs. Over time, this buildup can become toxic and …

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