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Wilson Disease ATP7 B Gene Mutation Detection Test Cost

Original price was: 14,000 د.إ.Current price is: 10,500 د.إ.

-25%

The Wilson Disease ATP7B Gene Mutation Detection Test is a specialized diagnostic procedure aimed at identifying mutations in the ATP7B gene, which are responsible for Wilson Disease. Wilson Disease is a rare genetic disorder that leads to excessive accumulation of copper in the body, affecting the liver, brain, and other vital organs. Early detection and treatment are crucial for managing the disease effectively.

This test is conducted by DNA Labs UAE, a leading facility in genetic testing, ensuring high accuracy and reliability of results. By analyzing the patient’s DNA, the test can pinpoint specific mutations in the ATP7B gene, confirming the diagnosis of Wilson Disease. This information is vital for clinicians to devise appropriate treatment plans and for affected families to understand the risk of inheritance.

The cost of the Wilson Disease ATP7B Gene Mutation Detection Test at DNA Labs UAE is 10,500 AED. Although the price may seem high, the test offers invaluable insights into managing and treating a potentially life-threatening condition, making it a critical investment in the health and well-being of individuals at risk for or suspected of having Wilson Disease.

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Wilson Disease ATP7 B Gene Mutation Detection Test

Are you concerned about Wilson disease? DNA Labs UAE offers the Wilson Disease ATP7 B Gene Mutation Detection Test at a cost of AED 10500.0.

Test Details

The Wilson Disease ATP7B Gene Mutation Detection Test is a genetic test that detects mutations in the ATP7B gene associated with Wilson disease. Wilson disease is a rare genetic disorder that affects the body’s ability to regulate copper levels, resulting in the accumulation of copper in the liver, brain, and other organs.

The ATP7B gene provides instructions for producing a protein involved in transporting copper out of liver cells and into the bile ducts. Mutations in this gene can disrupt the normal function of the protein, causing copper buildup in the liver and other tissues.

The Wilson Disease ATP7B Gene Mutation Detection Test is typically performed on a blood or saliva sample. The test utilizes polymerase chain reaction (PCR) to amplify and sequence the ATP7B gene. The sequence data is then compared to a reference sequence to identify any mutations or variations in the gene.

Symptoms and Diagnosis

Individuals with Wilson disease may experience a range of symptoms, including fatigue, jaundice, abdominal pain, neurological problems, and psychiatric symptoms. Diagnosis of Wilson disease is usually based on a combination of clinical symptoms, family history, and laboratory tests.

Referring Doctor

The Wilson Disease ATP7B Gene Mutation Detection Test can be ordered by physicians specializing in gastroenterology, ophthalmology, or general medicine.

Sample Requirements

A minimum of 4 mL of whole blood in a Lavender Top (EDTA) tube is required for the test. The sample should be shipped refrigerated, but not frozen. Additionally, a duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.

Report Delivery

Sample collection is done daily by 11 am, and the report is typically delivered within 2 months.

Pre Test Information

A duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory for the Wilson Disease ATP7B Gene Mutation Detection Test.

Genetic Disorders Test Department

The Wilson Disease ATP7B Gene Mutation Detection Test is conducted in the OS department.

Conclusion

The Wilson Disease ATP7B Gene Mutation Detection Test offered by DNA Labs UAE is a valuable tool for the early detection and management of Wilson disease. By identifying mutations in the ATP7B gene, this test allows for prompt diagnosis and treatment, ensuring better outcomes for individuals with Wilson disease.

Test Name WILSON DISEASE ATP7 B GENE MUTATION DETECTION Test
Components
Price 10500.0 AED
Sample Condition 4 mL (2 mL min.) whole blood in 1 Lavender Top (EDTA) tube. Ship refrigerated. DO NOT FREEZE. Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.
Report Delivery Sample Daily by 11 am ; Report 2 months
Method PCR
Test type Genetic Disorders
Doctor Physician, Gastroenterologist, Opthalmologist
Test Department: OS
Pre Test Information Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.
Test Details

The Wilson Disease ATP7B Gene Mutation Detection Test is a genetic test that is used to detect mutations in the ATP7B gene that are associated with Wilson disease. Wilson disease is a rare genetic disorder that affects the body’s ability to regulate copper levels, leading to the accumulation of copper in the liver, brain, and other organs.

The ATP7B gene provides instructions for making a protein that is involved in the transport of copper out of liver cells and into the bile ducts. Mutations in this gene can disrupt the normal function of the protein, leading to the buildup of copper in the liver and other tissues.

The Wilson Disease ATP7B Gene Mutation Detection Test is typically performed on a blood or saliva sample. The test uses a technique called polymerase chain reaction (PCR) to amplify and sequence the ATP7B gene. The sequence data is then compared to a reference sequence to identify any mutations or variations in the gene.

If a mutation is identified, the test can be used to confirm a diagnosis of Wilson disease in individuals with symptoms or a family history of the condition. The test can also be used to screen family members of individuals with Wilson disease for the presence of the mutation.

Overall, the Wilson Disease ATP7B Gene Mutation Detection Test is a valuable tool for the diagnosis and management of Wilson disease, as it allows for early detection and treatment of the condition.

SKU: TEST-691 Category:

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