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secondary findings
- Secondary findings are genetic test results that provide information about changes (variants) in a gene unrelated to the ... testing was originally indicated. This is called a secondary finding. Some individuals with a secondary finding may not ...
- Loeys-Dietz syndrome is a disorder that affects the connective tissue in many parts of the body. Connective tissue provides strength and flexibility to structures ...
- Malignant hyperthermia is a severe reaction to particular anesthetic drugs that are often used during surgery and other invasive procedures. Specifically, this ...
- The ENG gene provides instructions for making a protein called endoglin. This protein is found on the surface of cells, especially in the lining of developing ...
- The SMAD4 gene provides instructions for making a protein involved in transmitting chemical signals from the cell surface to the nucleus. The SMAD4 protein ...
- The TNNI3 gene provides instructions for making a protein called cardiac troponin I, which is found solely in the heart (cardiac) muscle. Cardiac troponin ...
- The RB1 gene provides instructions for making a protein called pRB. This protein acts as a tumor suppressor, which means that it regulates cell growth and ...
- The BRCA1 gene provides instructions for making a protein that acts as a tumor suppressor. Tumor suppressor proteins help prevent cells from growing and ...
- The TTN gene provides instructions for making a very large protein called titin. This protein plays an important role in skeletal muscles, which the body ...
- Juvenile polyposis syndrome is a disorder characterized by multiple noncancerous (benign) growths called juvenile polyps. People with juvenile polyposis syndrome ...
