WILSON DISEASE TESTING (ATP7B) BY NGS
MRP - ₹ 26,100
What is a WILSON DISEASE TESTING (ATP7B) BY NGS?
The Wilson Disease Testing (ATP7B) by NGS is a genetic test that uses Next Generation Sequencing (NGS) to analyze mutations in the ATP7B gene, which is responsible for Wilson disease. Wilson disease is a rare inherited disorder that causes copper accumulation in the liver, brain, and other organs, leading to serious complications if untreated. This test is performed to confirm diagnosis, identify carriers, and guide treatment decisions, ensuring early detection and better management of the condition.
Additional Information
| Also known as/ Other names: | ATP7B Gene Sequencing, Wilson Disease Genetic Test,ATP7B Mutation Analysis by NGS, Wilson Disease NGS Panel |
| Parameters: | 1 |
| Recommended for: | M/F/Others |
| Sample Type: | Blood |
| Patient Preparation: | Minimum gap from Chemotherapy should be 2 weeks |
| Reports: | 4-6 weeks |
FAQs
It confirms Wilson disease diagnosis, identifies carriers, and guides treatment decisions to prevent copper buildup in organs.
Patients with unexplained liver disease, neurological symptoms, or family history of Wilson disease may be recommended for testing.
A positive result confirms Wilson disease or carrier status, guiding treatment and family counseling.
A negative result suggests no detectable ATP7B mutations, reducing likelihood of Wilson disease.
No, medications do not interfere with genetic sequencing results.
Yes, it is safe and often performed in pediatric patients with suspected Wilson disease.
Without testing, Wilson disease may remain undiagnosed, leading to severe liver and neurological damage.
It cannot be prevented, but early detection allows effective treatment to prevent complications.
Positive results indicate Wilson disease, a genetic disorder causing copper accumulation in the liver, brain, and other organs.
Biochemical tests measure copper levels, while genetic testing identifies the underlying ATP7B mutations.
