Short Description

Wilson disease is most commonly caused by mutations in the ATP7B gene. The most commonly seen mutation is H1069Q, accounting for 37-63% of mutations in Caucasians. The mutation R778L accounts for 57% of Wilson disease alleles in the East Asian population. There are more than 370 mutations reported worldwide.

PreTest Information

Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.

Detail Description

Wilson Disease ATP7 B Gene Mutation Detection Test: Cost, Symptoms, Diagnosis

Wilson Disease is a rare genetic disorder that affects the body's ability to process copper. This causes copper to accumulate in the liver, brain, and other organs, leading to liver disease, neurological problems, and other complications. DNA Labs India offers a genetic test for Wilson Disease that detects mutations in the ATP7 B gene, which is responsible for copper transport in the body. The test can help diagnose Wilson Disease and guide treatment decisions.

Wilson Disease ATP7 B Gene Mutation Detection Test Cost

The cost of the Wilson Disease ATP7 B Gene Mutation Detection Test at DNA Labs India is INR 58,968. This includes the cost of the test kit, sample collection, DNA sequencing, and analysis. The test is performed using a blood or saliva sample, and results are typically available within 4-6 weeks.

Symptoms of Wilson Disease

Wilson Disease can cause a wide range of symptoms, which can vary depending on the severity of the condition. Some of the most common symptoms include:

• Jaundice
• Abdominal pain and swelling
• Nausea and vomiting
• Fatigue
• Tremors or other movement problems
• Speech difficulties
• Difficulty thinking or reasoning
• Depression or other mood changes
• Behavioral problems
• Memory loss

Many of these symptoms can be caused by other conditions, so it's important to get a proper diagnosis if you're experiencing any of them.

Diagnosing Wilson Disease

Diagnosing Wilson Disease can be challenging, as many of the symptoms are nonspecific and can be caused by other conditions. The diagnosis typically involves a combination of clinical evaluation, imaging tests, and laboratory tests.

The genetic test for Wilson Disease offered by DNA Labs India can be an important tool in the diagnosis of the condition. The test detects mutations in the ATP7 B gene, which is responsible for copper transport in the body. Mutations in this gene can cause Wilson Disease, and detecting these mutations can help confirm a diagnosis.

Conclusion

Wilson Disease is a rare genetic disorder that can cause a wide range of symptoms, including liver disease and neurological problems. DNA Labs India offers a genetic test for Wilson Disease that detects mutations in the ATP7 B gene, which can help diagnose the condition and guide treatment decisions. If you're experiencing symptoms of Wilson Disease or have a family history of the condition, talk to your doctor about whether genetic testing may be appropriate for you.

For more information on the Wilson Disease ATP7 B Gene Mutation Detection Test, please visit https://dnalabsindia.com/wilson-disease-atp7b-gene-mutation-detection-test/.

Wilson disease is most commonly caused by mutations in the ATP7B gene. The most commonly seen mutation is H1069Q, accounting for 37-63% of mutations in Caucasians. The mutation R778L accounts for 57% of Wilson disease alleles in the East Asian population. There are more than 370 mutations reported worldwide.