Tuberous sclerosis Deletion/Duplication Test

Tuberous sclerosis is a very rare multisystem genetic disorder that causes tumors of non-cancerous nature. Nearly two children born every day suffers from Tuberous sclerosis. A tuberous sclerosis complex (TSC) is formed by the mutation of two genes, namely hamartin or TSC1 and tuberin or TSC2. TSC suppress tumors. Tuberous sclerosis harms the vital organs of the body and causes benign tumors to grow in the brain. TSC leads to kidney problems, brain tumors, heart tumors, eye tumors various skin problems. In addition to the benign tumors, other common symptoms include seizures, mental retardation, and behavior problems. Genetic testing is required to check the symptoms.

Thorough DNA test is a must in a genetic disorder. A person is asked to be calm. It is because the pulse rates of the patient will be normal. Normal diet is recommended to be followed and fruit juices can also be taken. As the two kinds of genes are tested, i.e. TSC1 and TSC2, the person can continue with the daily routine. The lab attendants will take care of the patient and thus the particular instructions being given by him should be followed.

The test taken to detect Tuberous Sclerosis Complex is clinically proven. It helps in the detection of a genetic disorder. Its applications are not confined to tuberous sclerosis only. It helps in Diagnosis, Mutation Confirmation, risk Assessment etc. TSC1 and TSC2 are tested from this test and the respective treatment is given. The treatment depends upon the reports of the test. The test is applied either blood or fresh/frozen tumor. It leads to the sequencing and deletion/duplication of the disease. It is known to include an average coverage of 1800x. The presence of such amount leads to the identification of mosaicism.

To identify the frequency of the disease, a genetic testing is done. This genetic testing takes place in a particular sequence which is mentioned below. • Firstly the two genes, i.e. TSC1 and TSC2 genes identified. • The sequence analysis is done to detect the small as well as the longer deletions of both the genes. • And then the most sensitive method is applied to identify large gene deletions. • The mutations so identified are confirmed once again. It is sometimes called clinical testing. • Then the duplication testing is done to ensure Custom Deletion. • When each and every test is applied, the result interpretation takes place.