ATP7B Gene Wilson disease NGS Genetic Test
Short Name: Wilson Disease NGS Test
Also known as: Hepatolenticular degeneration, Wilson's disease genetic test
ATP7B Gene Wilson disease NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 Weeks. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
To diagnose Wilson disease by identifying pathogenic mutations in the ATP7B gene, confirm the genetic basis of the condition, guide treatment decisions, enable family screening, and support genetic counseling for hereditary metabolic disorders.
- Test Code
- 2274
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 Weeks
- Fasting Required
- Yes
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
Provide detailed clinical history of the patient and undergo a genetic counseling session to draw a family pedigree chart. Fasting may be required as per lab guidelines.
Method: Venipuncture
Laboratory Analysis
A blood sample is collected via venipuncture by a trained phlebotomist, ensuring proper aseptic technique.
Report Delivery
Apply pressure to the puncture site to prevent bleeding. The sample is processed and sent for genetic analysis.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To diagnose Wilson disease by identifying pathogenic mutations in the ATP7B gene, confirm the genetic basis of the condition, guide treatment decisions, enable family screening, and support genetic counseling for hereditary metabolic disorders.
How to Prepare
- Ensure accurate patient identification and labeling
- Use sterile collection tubes and follow standard protocols
- For FTA card samples, apply one drop of blood and allow it to dry
- Transport samples at ambient room temperature as specified
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic testing for Wilson disease is crucial for timely intervention, especially in families with a history of metabolic disorders."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted or hemolyzed blood samples
- Insufficient sample volume
- Incorrectly labeled or unlabeled samples
Understanding Your Results
Positive for pathogenic ATP7B mutation
Confirms a diagnosis of Wilson disease or carrier status; recommend clinical evaluation and genetic counseling.
Negative for pathogenic ATP7B mutation
No disease-associated mutations detected; but does not entirely rule out Wilson disease if clinical suspicion remains.
Variant of uncertain significance (VUS)
Genetic variant identified with unclear clinical impact; further testing and family studies may be needed.
Consult a healthcare provider immediately if symptoms of liver or neurological disease are present, or if test results indicate a positive mutation. Genetic counseling is recommended for all individuals and families.
Limitations
- ⚠May not detect all possible genetic variants due to sequencing technology limitations
- ⚠Results require interpretation by a genetic counselor or specialist
- ⚠Does not replace comprehensive clinical evaluation and other diagnostic tests
Risks & Considerations
- ●Minor pain or bruising at the blood draw site
- ●Rare risk of infection or fainting
- ●Psychological impact of genetic results; counseling provided
Interfering Factors
- ●Contaminated or degraded DNA samples
- ●Recent blood transfusions may affect DNA analysis
- ●Incorrect sample collection or handling procedures
Frequently Asked Questions
What is Wilson disease?
What does the ATP7B Gene NGS Genetic Test involve?
Why is genetic testing important for Wilson disease?
Who should consider this test?
How is the test performed?
What is the cost of the test?
Is home sample collection available?
How long does it take to get results?
What do the results mean?
Are there any risks associated with the test?
Can this test replace other diagnostic methods?
Is genetic counseling included?
Related Tests
Reference Laboratory Services
We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.
Your Data Privacy
Your medical data is protected under Indian law.
✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.
Book Your Test
Enter your details and we'll connect you within 15 minutes.