HNF1A Gene Renal cell carcinoma, due to HNF1A germline mutation NGS Genetic Test
Short Name: HNF1A NGS Test
Also known as: HNF1A Gene Mutation Test, Renal Cell Carcinoma Genetic Test, HNF1A Germline Mutation NGS
HNF1A Gene Renal cell carcinoma, due to HNF1A germline mutation 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 Results are typically available within 3 to 4 weeks after the sample reaches the laboratory.. 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 purpose of this test is to identify germline mutations in the HNF1A gene that are associated with an increased risk of developing renal cell carcinoma. It aids in confirming a clinical diagnosis, guiding treatment decisions, and enabling surveillance for at-risk family members.
- Test Code
- 6019
- CPT Code
- 81479
- ICD Code
- C64.9
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Results are typically available within 3 to 4 weeks after the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. However, a genetic counseling session is recommended to discuss the implications of the test. Please provide a detailed clinical history and family pedigree.
Method: Venipuncture or FTA card spot
Laboratory Analysis
Blood sample will be collected by a trained phlebotomist. If using FTA card, a drop of blood will be placed on the card. The procedure is quick and minimally invasive.
Report Delivery
No specific aftercare is needed. You can resume normal activities immediately. The sample will be transported to the laboratory for analysis.
Timeline: Results are typically available within 3 to 4 weeks after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify germline mutations in the HNF1A gene that are associated with an increased risk of developing renal cell carcinoma. It aids in confirming a clinical diagnosis, guiding treatment decisions, and enabling surveillance for at-risk family members.
How to Prepare
- Ensure the patient's identity is verified before sample collection
- Use EDTA tube for blood collection; mix gently to prevent clotting
- If using FTA card, allow the blood spot to dry completely before packaging
- Label the sample with patient's name, date of birth, and collection date
- Transport the sample at ambient temperature to the laboratory
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early detection of HNF1A germline mutations is crucial for managing renal cell carcinoma risk. This NGS test provides comprehensive genetic information to guide personalized treatment and surveillance."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improperly labeled sample
- Sample exposed to extreme temperatures
- Sample received after prolonged transit time without proper storage
Understanding Your Results
Positive (Pathogenic variant detected)
Confirms the diagnosis of HNF1A-related RCC. Genetic counseling is recommended for the patient and family. Surveillance and management should be discussed with an oncologist.
Negative (No pathogenic variant detected)
No germline mutation in HNF1A gene was found. This reduces the likelihood of HNF1A-related RCC, but other genetic or sporadic causes should be considered.
Variant of Uncertain Significance (VUS)
A genetic variant was found but its clinical significance is unknown. Further testing of family members may help clarify. Clinical correlation is advised.
Consult your oncologist or genetic counselor if you have a family history of renal cell carcinoma, if you have been diagnosed with RCC at a young age, or if you have multiple kidney tumors. Also, seek medical advice if you experience blood in urine, abdominal pain, or unexplained weight loss.
Limitations
- ⚠This test detects mutations only in the HNF1A gene; other genetic causes of RCC are not evaluated
- ⚠Variants of uncertain significance may require further family studies
- ⚠NGS may not detect large deletions/duplications or deep intronic mutations
- ⚠Test does not assess somatic mutations in tumor tissue
Risks & Considerations
- ●Bruising or bleeding at the puncture site
- ●Dizziness or fainting during blood collection
- ●Infection (rare, if proper hygiene is not maintained)
- ●Psychological impact of genetic results
Interfering Factors
- ●Contamination of sample with foreign DNA
- ●Insufficient DNA quantity or quality
- ●Presence of hematological malignancies may affect DNA extraction
- ●Recent blood transfusion may dilute patient's DNA
Compare With Similar Tests
| Test | HNF1A Gene Renal cell carcinoma, due to HNF1A germline mutation NGS Genetic Test | VHL Gene Mutation Test | MET Gene Mutation Test | BAP1 Gene Mutation Test | FH Gene Mutation Test |
|---|---|---|---|---|---|
| Comparison | HNF1A Gene Renal cell carcinoma, due to HNF1A germline mutation NGS Genetic Test | VHL mutations are associated with clear cell RCC, while HNF1A is linked to a specific subtype. Both are hereditary but have different clinical implications. | MET mutations are seen in papillary RCC. HNF1A testing is specific for HNF1A-related RCC, which is distinct from papillary RCC. | BAP1 mutations are associated with aggressive clear cell RCC. HNF1A-related RCC has a different prognosis and management. | FH mutations cause hereditary leiomyomatosis and RCC. HNF1A testing is separate and focuses on the HNF1A gene. |
Frequently Asked Questions
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