Short Description

NGS genetic DNA test detecets for variant and mutation detection in ATP7B gene for Wilson disease

PreTest Information

Clinical History of Patient who is going for ATP7B Gene Wilson disease NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Wilson disease

Detail Description

Understanding Wilson Disease and the Importance of ATP7B Gene NGS Genetic DNA Test

Wilson disease is a rare genetic disorder that affects the body's ability to process copper. It is caused by a mutation in the ATP7B gene, which is responsible for the production of a protein that helps transport copper out of the liver and into the bile ducts. When this gene is mutated, copper accumulates in the liver, brain, and other organs, leading to a range of symptoms.

Symptoms of Wilson Disease

The symptoms of Wilson disease can vary widely from person to person, depending on the severity of the condition and the organs affected. Some of the most common symptoms include:

• Jaundice
• Abdominal pain and swelling
• Nausea and vomiting
• Fatigue and weakness
• Tremors and difficulty with coordination
• Speech and language difficulties

Left untreated, Wilson disease can lead to liver failure, brain damage, and other serious complications. That's why early detection and treatment are crucial.

Diagnosing Wilson Disease

Diagnosing Wilson disease can be challenging, as its symptoms can be similar to those of other liver and neurological conditions. However, a genetic test can help confirm a diagnosis of Wilson disease and identify the specific ATP7B gene mutation responsible for the condition. This can help doctors develop an effective treatment plan and monitor the patient's progress over time.

The Importance of ATP7B Gene NGS Genetic DNA Test

The ATP7B gene NGS genetic DNA test is a highly accurate and reliable way to diagnose Wilson disease. It uses next-generation sequencing (NGS) technology to analyze the patient's DNA and identify any mutations in the ATP7B gene. This test can detect even rare mutations that may be missed by other genetic tests, making it an essential tool for diagnosing Wilson disease.

Cost of ATP7B Gene NGS Genetic DNA Test

The cost of ATP7B gene NGS genetic DNA test in India is typically around INR 20,000. While this may seem expensive, it is a small price to pay for the peace of mind that comes with an accurate diagnosis and effective treatment plan.

Conclusion

Wilson disease can be a serious and potentially life-threatening condition, but early detection and treatment can make all the difference. If you or a loved one are experiencing symptoms of Wilson disease, it's important to speak with a healthcare provider and consider undergoing the ATP7B gene NGS genetic DNA test. With this powerful diagnostic tool, you can get the answers you need to manage your condition and improve your quality of life.

For more information on Wilson disease and genetic testing, contact DNA Labs India.