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Screening includes a multidisciplinary team (endocrinologist, oncologist, psychologist, geneticist, parent, and child) where the primary focus is supporting the child. [49] A positive result from testing during family-observed days of celebration may mask the happiness associated with these events in the future. Testing one pediatric sibling at ...
MEN2B should be entertained as a diagnosis whenever a person is found to have either medullary thyroid carcinoma or pheochromocytoma. Before DNA testing became available, measurement of serum calcitonin was the most important laboratory test for MEN2B. Calcitonin is produced by the "C" cells of the thyroid, which, because they are always ...
Before gene testing was available, the type and location of tumors determined which type of MEN2 a person had. Gene testing now allows a diagnosis before tumors or symptoms develop. [citation needed] Comparison of main types of multiple endocrine neoplasia. A table in the multiple endocrine neoplasia article compares the various MEN syndromes ...
A hypothetical ideal "gold standard" test has a sensitivity of 100% concerning the presence of the disease (it identifies all individuals with a well-defined disease process; it does not have any false-negative results) and a specificity of 100% (it does not falsely identify someone with a condition that does not have the condition; it does not have any false-positive results).
Unlike the tests described above, forensic testing is not used to detect gene mutations associated with disease. This type of testing can identify crime or catastrophe victims, rule out or implicate a crime suspect, or establish biological relationships between people (for example, paternity).
A test with 100% sensitivity will recognize all patients with the disease by testing positive. In this case, a negative test result would definitively rule out the presence of the disease in a patient. However, a positive result in a test with high sensitivity is not necessarily useful for "ruling in" disease.
When the same type of tumor is found in the adrenal gland, they are referred to as a pheochromocytoma. They are rare tumors, with an overall estimated incidence of 1 in 300,000. [1] There is no test that determines benign from malignant tumors; long-term follow-up is therefore recommended for all individuals with paraganglioma. [2]
The test has been widely used throughout North America and Europe as one of the core newborn screening tests since the late 1960s. The test was initially a bacterial inhibition assay , but is gradually being replaced in many areas by newer techniques such as tandem mass spectrometry that can detect a wider variety of congenital diseases .