Wilson Disease ATP7 B Gene Mutation Detection Test
Short Name: WD ATP7B Mutation Test
Also known as: Wilson Disease Genetic Test, ATP7B Gene Mutation Analysis, Wilson Disease Mutation Detection, WD Gene Test
Wilson Disease ATP7 B Gene Mutation Detection Test test available at DNA Labs India for ₹58,968. Uses PCR, DNA sequencing, ATP7B mutation analysis on Whole Blood (EDTA) samples. Results in Report is generally available within 4-6 weeks. Due to complex sequencing and interpretation, final report may be issued up to 2 months from sample receipt.. 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
This test detects mutations in the ATP7B gene to establish a molecular diagnosis of Wilson Disease. It is also used for carrier detection and family screening in individuals with a history of Wilson Disease.
- Test Code
- 3758
- ICD Code
- E83.01
- Price
- ₹58,968
- Sample Type
- Whole Blood (EDTA)
- Result Time
- Report is generally available within 4-6 weeks. Due to complex sequencing and interpretation, final report may be issued up to 2 months from sample receipt.
- Fasting Required
- No
- Method
- PCR, DNA sequencing, ATP7B mutation analysis
Sample Collection
Complete the Genomics Clinical Information Requisition Form (Form 20). Inform your doctor about any symptoms, family history, and current medicines. No fasting is required.
Method: Peripheral venepuncture
Laboratory Analysis
A trained phlebotomist will collect 4 mL of blood into a lavender top EDTA tube. The procedure takes only a few minutes and is minimally invasive.
Report Delivery
You can resume normal activities immediately. The sample will be refrigerated and transported to the laboratory as per standard protocol. Do not freeze the sample.
Timeline: Report is generally available within 4-6 weeks. Due to complex sequencing and interpretation, final report may be issued up to 2 months from sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
This test detects mutations in the ATP7B gene to establish a molecular diagnosis of Wilson Disease. It is also used for carrier detection and family screening in individuals with a history of Wilson Disease.
How to Prepare
- Use 1 lavender top EDTA tube
- Collect 4 mL whole blood (minimum 2 mL)
- Ship refrigerated at 2-8°C
- Do not freeze
- Submit the duly filled Form 20
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for Wilson Disease is most valuable when used with comprehensive clinical and biochemical assessment. In at-risk families, molecular testing allows precise identification of affected individuals in a timely manner."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted or haemolysed blood sample
- Frozen or severely haemolysed sample
- Incomplete, missing, or mismatched requisition form
- Unlabeled or improperly labeled sample tube
Understanding Your Results
No pathogenic mutation was identified in the ATP7B gene. Wilson Disease becomes less likely, but if clinical suspicion remains high, further biochemical or genetic evaluation may be needed.
Result type: Negative
One mutated copy of ATP7B gene was detected. This indicates a carrier state in the family; in an affected individual, a second variant may be present but not detected by this test.
Result type: Heterozygous pathogenic variant
Two mutated ATP7B alleles were identified. This is a molecular confirmation of Wilson Disease in an appropriate clinical setting.
Result type: Homozygous or compound heterozygous pathogenic variants
A genetic change was found, but its clinical effect is not clear. Further testing of relatives or additional functional studies may be needed before it can be used for diagnosis.
Result type: Variant of uncertain significance
Consult a hepatologist, gastroenterologist, neurologist, or genetic specialist if you have unexplained liver disease, neurological symptoms, psychiatric features, or a family history of Wilson Disease.
Limitations
- ⚠This test only analyses the ATP7B gene and does not evaluate all causes of copper overload
- ⚠Rare deep intronic variants or large gene rearrangements may not be reported by all methods
- ⚠A negative result does not completely exclude Wilson Disease if clinical or biochemical suspicion is high
- ⚠A single mutation detected in a patient with symptoms could suggest a missing second mutation and needs further testing
- ⚠Test results should be interpreted by a clinical geneticist or metabolic specialist
Risks & Considerations
- ●Minor pain or bruising at the venepuncture site
- ●Light-headedness or fainting during blood draw
- ●Very small risk of infection or hematoma
Interfering Factors
- ●Sample kept at room temperature for more than one week may degrade DNA
- ●Freezing the EDTA sample can damage cells and reduce DNA yield
- ●Contamination with another person's DNA during collection or processing
- ●Large deletions or duplications may not be detected by standard sequencing
- ●A variant of uncertain significance may require additional family studies
Compare With Similar Tests
| Test | Wilson Disease ATP7 B Gene Mutation Detection Test | Serum Ceruloplasmin | 24-Hour Urinary Copper | Liver Biopsy with Copper Quantification |
|---|---|---|---|---|
| Comparison | Wilson Disease ATP7 B Gene Mutation Detection Test |
Frequently Asked Questions
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