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Book Wilson Disease Gene Analysis (atp7b) Test in Pandhurna

Wilson disease is an autosomal recessive disorder that is characterized by abnormal copper metabolism. This leads to copper accumulation in various organs, particularly the liver and brain. The disease is caused by mutations in the ATP7B gene, which encodes a copper-transporting ATPase involved in copper excretion. Genetic analysis of ATP7B mutations plays a crucial role in the diagnosis and management of Wilson disease. Identification of pathogenic mutations confirms the diagnosis, predicts disease severity, and guides treatment decisions, including the initiation of lifelong copper-chelation therapy. Moreover, genetic testing enables carrier detection and prenatal diagnosis in at-risk families, facilitating genetic counseling and family planning. Overall, ATP7B gene analysis is essential for the comprehensive care of patients with Wilson disease and their relatives.

No special precaution required

700 hours Result

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Redcliffe Labs

20500

Detailed Package Insights

Wilson disease is an autosomal recessive disorder that is characterized by abnormal copper metabolism. This leads to copper accumulation in various organs, particularly the liver and brain. The disease is caused by mutations in the ATP7B gene, which encodes a copper-transporting ATPase involved in copper excretion. Genetic analysis of ATP7B mutations plays a crucial role in the diagnosis and management of Wilson disease. Identification of pathogenic mutations confirms the diagnosis, predicts disease severity, and guides treatment decisions, including the initiation of lifelong copper-chelation therapy. Moreover, genetic testing enables carrier detection and prenatal diagnosis in at-risk families, facilitating genetic counseling and family planning. Overall, ATP7B gene analysis is essential for the comprehensive care of patients with Wilson disease and their relatives.

PREPARATIONS
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EARLIEST REPORTS IN
700 hours
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Redcliffe Labs
FULFILLED BY
Redcliffe Labs
Redcliffe Labs is headed and supervised by expert personnel of skillful and dynamic technocrats in the domain of Medicine and Pathology. We have a team of dedicated, qualified, and experienced pathology experts who deliver the test reports with utmost precision. Our pathologists follow NABL guidelines to provide accurate diagnostic reports and determine the root cause of a specific health disorder.
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Frequently Asked Questions about Wilson Disease Gene Analysis (atp7b) Test in Pandhurna