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Huntington Disease Test

Submitted on March 27, 2012

Huntington Disease

Huntington's disease is a genetic disorder which usually appears during the middle age of a person. The disease causes difficulty in eating as both the chewing and the swallowing actions become impaired. The movements become rickety and uncontrollable. In most cases, the cognitive abilities of the person also become impaired. Moreover, the disease also causes various other symptoms such as depression, anxiety, and inability to recognize negative behavioral manifestations such as anger and sadness.

Huntington’s disease testing can be determined by doing genetic testing. The test aims to identify the Huntington disease gene. The test only finds the presence of the gene, but cannot predict the course of the disease and the time of its onset. There are a total of three categories of the test.

Presymptomatic Testing

The first test is known as presymptomatic testing which is conducted specifically for people who are at a higher risk of developing this disease. In presymptomatic Huntington disease genetic testing there are several sessions of testing with various different professionals. The first examination is neurologic, after which there is the psychological review, and then a follow up. A blood sample is subsequently taken in order to check for genetic abnormalities.

Neurological Exam

The neurological exam can test for symptoms of Huntington disease and the likelihood of the onset of the disease in the future. If presymptomatic testing indicates that there is a presence of genetic abnormalities, it is followed up with confirmatory testing for the Huntington disease. This confirmatory testing is also done on those who show symptoms of the disease. This test is done to ascertain whether the people displaying symptoms of the disease really have the disease.

The testing process usually takes about a month’s time to complete. During this period, you may be required to visit the testing centre repeatedly. Your testing schedule will be prepared by people involved in the testing.

Contrary to popular belief, it is not necessary to get a test sample from your family. There are several test centers that do not require a sample from a relative. However, some laboratories may require a blood sample from a relative who has been diagnosed with Huntington disease. This is done to avoid a misdiagnosis. A misdiagnosis is extremely unlikely if it is established that the disease runs in the family.

Since there are several different tests which are conducted in the span of a month, the cost may run a little high.

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