Short Description

NGS genetic DNA test detecets for variant and mutation detection in ADA2 gene for Sneddon syndrome

PreTest Information

Clinical History of Patient who is going for ADA2 Gene Sneddon syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ADA2 Gene Sneddon syndrome NGS Genetic DNA Test gene ADA2

Detail Description

Understanding ADA2 Gene and Sneddon Syndrome: NGS Genetic DNA Test Cost INR 20000, Symptoms and Diagnosis

Sneddon syndrome is a rare condition that is characterized by the development of blood clots in small and medium-sized blood vessels. This condition affects the skin and the central nervous system, leading to skin discoloration, migraines, and neurological symptoms. The condition is thought to be caused by a mutation in the ADA2 gene. ADA2 is a gene that provides instructions for making an enzyme called adenosine deaminase 2. This enzyme plays a role in the immune system, helping to regulate inflammation and blood vessel function.

NGS Genetic DNA Test for ADA2 Gene Sneddon Syndrome

A Next-Generation Sequencing (NGS) genetic DNA test is a technique that can be used to identify mutations in the ADA2 gene. This test involves analyzing the DNA sequence of the ADA2 gene to look for mutations that may be causing Sneddon syndrome. The cost of this test is INR 20000.

Symptoms of Sneddon Syndrome

The symptoms of Sneddon syndrome can vary from person to person, but typically include:

• Skin discoloration
• Migraines
• Transient ischemic attacks (TIAs)
• Stroke
• Memory loss
• Difficulty speaking
• Seizures
• Weakness or numbness in the limbs

It's important to note that not everyone with Sneddon syndrome will experience all of these symptoms.

Diagnosis of Sneddon Syndrome

Diagnosing Sneddon syndrome can be challenging because the symptoms are similar to those of other conditions. A diagnosis is usually made based on a combination of clinical symptoms, imaging tests, and genetic testing. If a doctor suspects that a patient has Sneddon syndrome, they may order an NGS genetic DNA test to look for mutations in the ADA2 gene.

Conclusion

Sneddon syndrome is a rare condition that can have serious consequences if left untreated. If you or someone you know is experiencing symptoms of Sneddon syndrome, it's important to see a doctor right away. An NGS genetic DNA test can be used to identify mutations in the ADA2 gene and help diagnose Sneddon syndrome. The cost of this test is INR 20000. With early diagnosis and treatment, it is possible to manage the symptoms of Sneddon syndrome and improve quality of life.

For more information on NGS genetic DNA testing for ADA2 gene Sneddon syndrome, contact DNA Labs India.