Short Description

NGS genetic DNA test detecets for variant and mutation detection in ADAR gene for Aicardi-Goutieres syndrome type 6

PreTest Information

Clinical History of Patient who is going for ADAR Gene Aicardi-Goutieres syndrome type 6 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with ADAR Gene Aicardi-Goutieres syndrome type 6

Detail Description

ADAR Gene Aicardi-Goutieres Syndrome Type 6 NGS Genetic DNA Test

ADAR gene Aicardi-Goutieres syndrome type 6 (AGS6) is a rare genetic disorder that affects the brain and immune system. It is caused by mutations in the ADAR gene, which provides instructions for making a protein that plays a role in regulating the immune system and preventing the accumulation of abnormal proteins in cells.

AGS6 is characterized by progressive damage to the brain, which can lead to seizures, developmental delays, and intellectual disability. It can also cause abnormalities in the immune system, which can lead to chronic inflammation and an increased risk of infections.

Symptoms of ADAR Gene Aicardi-Goutieres Syndrome Type 6

The symptoms of AGS6 can vary widely, but typically begin in infancy or early childhood. Some of the most common symptoms include:

• Seizures
• Developmental delays
• Intellectual disability
• Abnormal muscle tone
• Choreoathetosis (involuntary movements of the limbs)
• Abnormalities in the immune system

Diagnosis of ADAR Gene Aicardi-Goutieres Syndrome Type 6

Diagnosing AGS6 can be challenging, as the symptoms can be similar to those of other neurological disorders. However, a genetic test can confirm a diagnosis of AGS6. The most commonly used test is Next-Generation Sequencing (NGS), which can detect mutations in the ADAR gene.

NGS Genetic DNA Test Cost for ADAR Gene Aicardi-Goutieres Syndrome Type 6

The cost of an NGS genetic DNA test for ADAR Gene Aicardi-Goutieres Syndrome Type 6 in India is approximately INR 20,000. This cost may vary depending on the laboratory and location.

Conclusion

ADAR Gene Aicardi-Goutieres Syndrome Type 6 is a rare genetic disorder that can have serious consequences for the brain and immune system. If you or your child are experiencing symptoms of AGS6, it is important to speak with a healthcare provider to determine the best course of action. A genetic test can provide an accurate diagnosis and help guide treatment decisions.

At DNA Labs India, we offer NGS genetic DNA testing for ADAR Gene Aicardi-Goutieres Syndrome Type 6 at an affordable cost. Our team of experts is committed to providing accurate and timely results to help you make informed healthcare decisions. Contact us today to learn more.