Diagnostic Tests for Multiple endocrine neoplasia type 1
Multiple endocrine neoplasia type 1: Diagnostic Tests
The list of diagnostic tests
mentioned in various sources as
used in the diagnosis of Multiple endocrine neoplasia type 1
includes:
Home Diagnostic Testing
These home medical tests may be relevant to Multiple endocrine neoplasia type 1:
- Colon & Rectal Cancer: Home Testing
- Thyroid: Home Testing:
- Cancer-Related Home Testing:
Multiple endocrine neoplasia type 1 Diagnosis: Book Excerpts
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.
(Source: excerpt from Multiple Endocrine Neoplasia Type 1: NIDDK)
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