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. |
