Tuberous Sclerosis (TSC2) Deletion/Duplication Test Cost & Procedure

What does the TSC2 Deletion/Duplication Test entail? 

Non-cancerous tumors are brought on by the extremely rare multisystem genetic condition known as tuberous sclerosis. Nearly two newborns every day are affected with tuberous sclerosis. Two genes, hamartin (TSC1) and tuberin (TSC2), are mutated to create a tuberous sclerosis complex (TSC). TSC prevents tumor growth. The body's critical organs are damaged by tuberous sclerosis, and benign tumors develop in the brain.

TSC causes different skin conditions, renal issues, brain tumors, heart tumors, eye tumors, and cardiac problems. Seizures, mental impairment, and behavioral issues are some additional frequent symptoms, in addition to the benign tumors. Checking the symptoms requires genetic testing.

Preparation for the deletion/duplication test for tuberous sclerosis (TSC2)

A comprehensive DNA test is required for a genetic condition. One is asked to maintain composure. Because the patient's pulse rate will be normal, this is the case. It is advised to have a normal diet, while fruit liquids are also acceptable. The person can carry on with their everyday activities as soon as the TSC2 gene is identified. The patient will be looked after by the lab staff, thus it is important to follow any specific directions he gives.

Utilize for the deletion/duplication examination for Tuberous Sclerosis (TSC2)

Clinical evidence supports

 the test used to identify Tuberous Sclerosis Complex. It aids in the genetic disorder's detection. Its uses are not restricted to tuberous sclerosis. It assists with diagnosis, mutation confirmation, risk assessment, and other processes. From this test, TSC2 is examined, and the appropriate therapy is administered. The consequences of the examination determine the course of treatment. Either blood or a fresh or frozen tumor is used in the examination . It causes the disease to be sequenced, deleted, or duplicated. It is known to have an average 1800x coverage. The discovery of mosaicism is made possible by the presence of such a quantity.

How to perform the deletion/duplication test for tuberous sclerosis (TSC2)

A genetic test is conducted to determine the prevalence of the condition. The sequence in which this genetic testing occurs is described below.

• The TSC2 gene was second discovered.
• The sequencing analysis is carried out to find both shorter and longer deletions of both genes.
•  Then, in order to detect significant gene deletions, the most sensitive technique is used.
• Another confirmation has been made for the indicated mutations. It's also known as clinical testing.
•  To guarantee Custom Deletion, duplicate testing is performed next.
• The results of each and every test are interpreted after application.

Requirements for Specimens

• sample of whole blood
• Volume 1 ml Tube with a lavender top 2 ml