Diagnostic Tests for Multiple endocrine neoplasia type 1


Diagnostic Test list for Multiple endocrine neoplasia type 1: The list of diagnostic tests mentioned in various sources as used in the diagnosis of Multiple endocrine neoplasia type 1 includes:

Tests and diagnosis discussion for Multiple endocrine neoplasia type 1: Each of us has millions of genes in each of our cells, which determine how our cells and bodies function. In people with MEN1, there is a mutation, or mistake, in one gene of every cell. A carrier is a person who has the MEN1 gene mutation. The MEN1 gene mutation is transmitted directly to a child from a parent carrying the gene mutation.

The MEN1 gene was very recently identified. As of 2001, a small number of centers around the world have begun to offer MEN1 gene testing on a research or commercial basis. The likelihood of finding a mutation in an MEN1 family has varied from 60 percent to 94 percent depending on methods. When a mutation is found, further testing in other relatives can become much easier. Many relatives can be tested once and be found without the known MEN1 mutation in their family, and then they can be freed from uncertainty and from any further testing ever for MEN1. When a mutation is not found in a family or isolated case, it does not prove that no MEN1 mutation is present. Depending on the clinical and laboratory information, it may still be very likely that a mutation is present but undetected.

In the meantime, though, screening of close relatives of persons with MEN1, who are at high risk, generally involves testing for hyperparathyroidism, the most common and usually the earliest sign of MEN1. Any doctor can screen for hyperparathyroidism by testing the blood for total calcium and sometimes one or two other substances such as ionized calcium and parathyroid hormone. An abnormal result indicates that the person probably has MEN1, but a normal finding in all cannot rule out the chance that he or she will develop hyperparathyroidism at a later time. Blood testing can usually show signs of early hyperparathyroidism many years before symptoms of hyperparathyroidism occur. 1

1. excerpt from Multiple Endocrine Neoplasia Type 1: NIDDK

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