WT-1 Mutation Detection Test
Short Name: WT1 Mutation Detection
Also known as: WT1 Gene Mutation Analysis, Wilms Tumor Gene 1 Mutation Detection, WT1 Gene Sequencing
WT-1 Mutation Detection Test test available at DNA Labs India for ₹12,000. Uses PCR Sequencing on Whole Blood / Bone Marrow samples. Results in Results are available within 18 days after sample reaches the laboratory. Notifications are sent via email and SMS once the report is ready.. 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
The primary purpose of the WT-1 mutation detection test is to detect germline mutations in the WT1 gene that predispose individuals to Wilms tumor and related conditions. It serves as a diagnostic aid, a predictive test for at-risk family members, and a guide to personalized treatment and surveillance strategies.
- Test Code
- 3757
- Price
- ₹12,000
- Sample Type
- Whole Blood / Bone Marrow
- Result Time
- Results are available within 18 days after sample reaches the laboratory. Notifications are sent via email and SMS once the report is ready.
- Fasting Required
- No
- Method
- PCR Sequencing
Sample Collection
No special preparation such as fasting is required. Please ensure the duly filled Genomics Clinical Information Requisition Form (Form 20) is completed before sample collection.
Method: Peripheral blood draw / bone marrow aspiration
Laboratory Analysis
A qualified phlebotomist will collect a whole blood sample in an EDTA tube or a bone marrow sample as prescribed by the physician.
Report Delivery
The sample should be refrigerated immediately and transported to the laboratory within 24 hours. Do not freeze the sample.
Timeline: Results are available within 18 days after sample reaches the laboratory. Notifications are sent via email and SMS once the report is ready.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of the WT-1 mutation detection test is to detect germline mutations in the WT1 gene that predispose individuals to Wilms tumor and related conditions. It serves as a diagnostic aid, a predictive test for at-risk family members, and a guide to personalized treatment and surveillance strategies.
How to Prepare
- Please complete the required Genomics Clinical Information Requisition Form (Form 20) prior to collection.
- Use an EDTA (lavender top) tube for blood collection.
- Minimum 4 mL of blood, with 2 mL accepted for pediatric cases.
- Ship the sample refrigerated immediately after collection.
- Do not freeze the sample at any point.
- For bone marrow, collect in a heparinized syringe or EDTA tube as per laboratory instructions.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"WT1 mutation testing is valuable for early detection and management of hereditary Wilms tumor. Timely genetic counseling is recommended for all positive cases."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Sample received frozen
- Inadequate sample volume (less than 2 mL)
- Incorrect sample container
- Missing or incomplete requisition form (Form 20)
Understanding Your Results
No pathogenic mutation detected
No clinically significant WT1 mutation was found in the test sample. This reduces the likelihood of WT1-related inherited risk, but other genetic or non-genetic causes may still be considered.
Pathogenic variant (positive)
A WT1 mutation known to cause disease was identified. This confirms the genetic basis of the patient's condition and has implications for screening and management.
Variant of uncertain significance (VUS)
A genetic variant was detected that has not yet been classified as either benign or pathogenic. Further testing of family members may be helpful to clarify the significance.
If the WT-1 mutation detection test result is positive, it is strongly recommended to consult with an oncologist, nephrologist, and a genetic counselor to discuss individualized surveillance, prophylactic options, and family testing.
Limitations
- ⚠This assay only detects mutations in the WT1 gene and does not rule out other genetic causes of Wilms tumor
- ⚠PCR sequencing may not detect large deletions, duplications, or deep intronic variants
- ⚠Somatic mosaicism may result in a false-negative result
- ⚠Interpretation requires correlation with clinical findings
- ⚠Variant classification may evolve with new knowledge
Risks & Considerations
- ●No significant medical risks associated with a routine blood draw
- ●Minimal discomfort at the puncture site
- ●Possible slight bruising which resolves in a few days
- ●Infection is very rare when proper sterile technique is used
Interfering Factors
- ●Poor DNA quality or quantity from the sample
- ●Improper sample storage or transport
- ●Anticoagulant contamination (e.g., heparin)
- ●Recent blood transfusion (may dilute bone marrow cells)
- ●Prior bone marrow transplantation (can lead to mixed chimerism)
Compare With Similar Tests
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Frequently Asked Questions
What is the WT-1 mutation detection test?
Why is the WT-1 mutation detection test done?
What is the cost of the WT-1 mutation detection test in India?
Is fasting required for the WT-1 mutation detection test?
What sample is collected for the WT-1 mutation detection test?
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Is home sample collection available for the WT-1 mutation detection test?
What diseases are associated with WT1 gene mutations?
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Are there any risks associated with the WT-1 mutation detection test?
Will the WT-1 mutation detection test detect all types of mutations in WT1?
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