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Wilson Disease (ATP7 B Gene Mutation) Full Gene Sequencing

The full gene sequencing test for Wilson Disease, specifically the ATP7B gene mutation, plays a significant role in diagnosing this rare genetic disorder that causes excessive copper accumulation in vital organs like the liver and brain.

The ATP7B gene provides instructions for making a protein that is crucial for regulating copper levels in the body. A mutation in this gene can disrupt this regulation, leading to Wilson's disease. Full gene sequencing identifies such mutations, allowing for early diagnosis and appropriate management.

  • Test NameWilson Disease (ATP7 B Gene Mutation) Full Gene Sequencing
  • Sample TypeBlood
  • Preparations RequiredNo specific preparations are required for this test.
  • Report Time1 Month
What is the importance of getting the ATP7B gene sequencing done?

The test is essential in diagnosing Wilson's disease, a serious condition that, if left untreated, can lead to life-threatening complications.

Is fasting required for this test?

No, fasting is not required for this test.

Home Sample Collection Process

1
Book your convenient slot
Book your convenient slot
2
Sample Collection by Phlebotomist
Sample Collection by Phlebotomist
3
Reporting of the sample at lab
Reporting of the sample at lab
4
Download Reports
Download Reports
Frequently Asked Questions

A blood sample is needed for this test.

Consider this test if you have symptoms of Wilson's disease, such as liver disease symptoms, neurological or psychiatric problems. Also, consider this test if you have a family history of Wilson's disease.

This test identifies mutations in the ATP7B gene, which can confirm a diagnosis of Wilson's disease.

This test is typically a one-time test, used for diagnosis purposes.

A normal result means no mutation was found in the ATP7B gene.

No specific precautions are required for this test.

Modifiable Factors: Not applicable as genetic mutations are inherent. Nonmodifiable Factors: Genetic predisposition to Wilson's disease.

You should consult a geneticist or a hepatologist (liver specialist).

A mutation in the ATP7B gene indicates a diagnosis of Wilson's disease. Your healthcare provider will guide you on the next steps for management and treatment.

Yes, with treatment, individuals with Wilson's disease can manage their symptoms and lead healthy lives.

Yes, Wilson's disease is an inherited condition and there is a risk of passing it on to your children.

No specific preparation is required, but you should always follow your doctor's instructions.

No, this test requires a blood sample to be taken by a healthcare professional in a clinical setting.

Understanding your genetic predisposition to Wilson's disease through ATP7B gene sequencing can provide valuable insights for early diagnosis and treatment planning. It's always essential to discuss the results with your healthcare provider who can provide more personalized advice based on your medical history and current health status.

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