Short Description

NGS genetic DNA test detecets for variant and mutation detection in MVK gene for Mevalonic aciduria

PreTest Information

Clinical History of Patient who is going for MVK Gene Mevalonic aciduria NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Mevalonic aciduria

Detail Description

MVK Gene Mevalonic aciduria NGS Genetic DNA Test

Mevalonic aciduria is a rare genetic disorder that affects the body's ability to produce cholesterol and other essential molecules. It is caused by mutations in the MVK gene, which provides instructions for making the enzyme mevalonate kinase.

Mevalonic aciduria is an autosomal recessive disorder, which means that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition. The symptoms of mevalonic aciduria can vary widely, but may include:

• Fevers
• Rashes
• Joint pain and swelling
• Headaches
• Enlarged liver and spleen

Mevalonic aciduria can be diagnosed through genetic testing. The MVK gene can be sequenced using next-generation sequencing (NGS) technology, which allows for a comprehensive analysis of the gene and can detect even rare mutations. The cost of an MVK gene NGS test is typically around INR 20,000.

If you or a loved one is experiencing symptoms of mevalonic aciduria, it is important to seek medical attention promptly. A diagnosis can help guide treatment and management of the condition, which may include medications to reduce inflammation and control fevers, as well as regular monitoring for potential complications.

At DNA Labs India, we offer comprehensive genetic testing services, including NGS testing for the MVK gene. Our team of experienced genetic counselors and scientists can help guide you through the testing process and provide personalized support and guidance. Contact us today to learn more about our services and how we can help you get the answers you need.