Short Description

NGS genetic DNA test detecets for variant and mutation detection in COL4A2 gene for Porencephaly type 2

PreTest Information

Clinical History of Patient who is going for COL4A2 Gene Porencephaly type 2 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with COL4A2 Gene Porencephaly type 2

Detail Description

COL4A2 Gene Porencephaly type 2 NGS Genetic DNA Test

COL4A2 Gene Porencephaly type 2 is a rare genetic disorder that affects the brain. It is caused by mutations in the COL4A2 gene, which provides instructions for making a protein called type IV collagen.

This protein is essential for the structure and function of blood vessels in the brain. Mutations in the COL4A2 gene can lead to the formation of abnormal blood vessels and the development of fluid-filled cavities in the brain, called porencephaly.

Symptoms of COL4A2 Gene Porencephaly type 2

The symptoms of COL4A2 Gene Porencephaly type 2 can vary from person to person, depending on the extent of brain damage. Some common symptoms include:

• Seizures
• Intellectual disability
• Developmental delay
• Weakness or paralysis on one side of the body
• Muscle stiffness or spasticity
• Speech difficulties
• Vision problems
• Headaches
• Behavioral problems

Diagnosis of COL4A2 Gene Porencephaly type 2

Diagnosis of COL4A2 Gene Porencephaly type 2 can be challenging, as the symptoms can be similar to other neurological disorders. A thorough medical history, physical examination, and imaging tests such as MRI or CT scan can help in the diagnosis.

Genetic testing is the most reliable way to diagnose COL4A2 Gene Porencephaly type 2. Next-generation sequencing (NGS) genetic testing is a type of DNA test that can detect mutations in the COL4A2 gene. This test can provide an accurate diagnosis and help in the management of the condition.

Cost of COL4A2 Gene Porencephaly type 2 NGS Genetic DNA Test

The cost of the COL4A2 Gene Porencephaly type 2 NGS Genetic DNA Test in India is approximately INR 20,000. The cost may vary depending on the laboratory and location.

Conclusion

COL4A2 Gene Porencephaly type 2 is a rare genetic disorder that affects the brain. Early diagnosis and management can help in improving the quality of life of affected individuals. Genetic testing, such as the NGS Genetic DNA Test, can provide an accurate diagnosis and help in the management of the condition. If you suspect that you or your child may have COL4A2 Gene Porencephaly type 2, consult a healthcare professional for further evaluation.

At DNA Labs India, we offer a wide range of genetic tests, including the NGS Genetic DNA Test for COL4A2 Gene Porencephaly type 2. Our tests are reliable, accurate, and affordable. Contact us today to learn more about our services.