Short Description

NGS genetic DNA test detecets for variant and mutation detection in CST3 gene for Cerebral amyloid angiopathy

PreTest Information

Clinical History of Patient who is going for CST3 Gene Cerebral amyloid angiopathy NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with CST3 Gene Cerebral amyloid angiopathy

Detail Description

CST3 Gene and Cerebral Amyloid Angiopathy: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

Cerebral amyloid angiopathy (CAA) is a neurological disorder that affects the blood vessels in the brain. It is caused by the buildup of amyloid protein in the walls of the blood vessels, which can lead to bleeding in the brain and other complications. One of the genes that has been linked to CAA is the CST3 gene.

What is the CST3 Gene?

The CST3 gene is located on chromosome 20 and encodes a protein called cystatin C. This protein is involved in the regulation of enzymes that break down proteins in the body. In particular, it inhibits an enzyme called cathepsin B, which is involved in the breakdown of amyloid protein.

Studies have shown that mutations in the CST3 gene can lead to a buildup of amyloid protein in the brain, which can cause CAA. However, not all cases of CAA are caused by mutations in this gene.

Symptoms of Cerebral Amyloid Angiopathy

The symptoms of CAA can vary depending on the severity of the condition and the location of the affected blood vessels. Some common symptoms include:

• Headaches
• Dizziness
• Nausea and vomiting
• Confusion or disorientation
• Memory loss or difficulty with thinking and reasoning
• Weakness or numbness in the limbs
• Speech difficulties

In severe cases, CAA can cause bleeding in the brain, which can lead to stroke or even death.

Diagnosis of Cerebral Amyloid Angiopathy

CAA is typically diagnosed through a combination of imaging tests, such as magnetic resonance imaging (MRI) or computed tomography (CT) scans, and a biopsy of the affected blood vessels. In some cases, genetic testing may also be used to identify mutations in genes such as CST3.

NGS Genetic DNA Test Cost

The cost of a Next-Generation Sequencing (NGS) genetic DNA test for CST3 gene mutations associated with CAA in India is around INR 20,000. This test can help identify whether an individual has a mutation in the CST3 gene that increases their risk of developing CAA.

Conclusion

Cerebral amyloid angiopathy is a serious neurological disorder that can lead to a range of symptoms and complications. While mutations in the CST3 gene have been linked to the development of CAA, not all cases are caused by genetic factors. If you are experiencing symptoms of CAA or have a family history of the condition, it is important to speak with a healthcare professional for a proper diagnosis and treatment plan.

If you are interested in genetic testing for CST3 mutations associated with CAA, contact DNA Labs India for more information about NGS genetic DNA test cost and availability.