NAFLD - PNPLA3 & TM6SF2 Genotyping Test
Also known as: PNPLA3 TM6SF2 Genotyping Test, NAFLD Genetic Risk Test
NAFLD - PNPLA3 & TM6SF2 Genotyping Test test available at DNA Labs India for ₹5,000. Uses Real time PCR on Whole blood samples. Results in Sample collection on Monday or Thursday by 9 am; reports available on Wednesday or Saturday.. 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 detect genetic variants in PNPLA3 and TM6SF2 genes that are linked to non-alcoholic fatty liver disease (NAFLD), helping assess the risk of developing or progressing to severe liver disease.
- Test Code
- 1287
- Price
- ₹5,000
- Sample Type
- Whole blood
- Result Time
- Sample collection on Monday or Thursday by 9 am; reports available on Wednesday or Saturday.
- Fasting Required
- No
- Method
- Real time PCR
Sample Collection
Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory. No special preparation required, but avoid heavy meals or alcohol before sample collection.
Method: Blood Draw
Laboratory Analysis
A blood sample will be drawn from a vein in your arm by a trained phlebotomist. The process is quick and minimally invasive.
Report Delivery
Apply pressure to the puncture site with a cotton ball to stop bleeding. You may resume normal activities immediately.
Timeline: Sample collection on Monday or Thursday by 9 am; reports available on Wednesday or Saturday.
Patient Instructions
About This Test
Who Should Get This Test
To detect genetic variants in PNPLA3 and TM6SF2 genes that are linked to non-alcoholic fatty liver disease (NAFLD), helping assess the risk of developing or progressing to severe liver disease.
How to Prepare
- Complete the Genomics Clinical Information Requisition Form (Form 20) before sample collection.
- Ensure the sample is properly labeled with patient details.
- The blood sample must be collected in a Lavender top (EDTA) tube.
- Ship the sample refrigerated, but do not freeze it.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This test identifies genetic variants like PNPLA3 I148M and TM6SF2 E167K that increase the risk of NAFLD and its progression, aiding in early detection and personalized management strategies."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Insufficient sample volume (less than 2 mL)
- Hemolyzed or clotted sample
- Unlabeled or improperly labeled sample
- Sample stored incorrectly (e.g., frozen when not allowed)
Understanding Your Results
Variant Detected (PNPLA3 I148M and/or TM6SF2 E167K)
Increased genetic risk for developing NAFLD or progression to more severe liver disease. Consultation with a healthcare provider is recommended for further evaluation and management.
No Variant Detected
No increased genetic risk identified for these specific variants. However, NAFLD can still occur due to other factors, so clinical correlation is advised.
If you experience symptoms such as fatigue, abdominal discomfort, or jaundice, or if you have risk factors like obesity or family history, consult a doctor for personalized advice based on test results.
Limitations
- ⚠This test detects specific variants but may not cover all genetic risks for NAFLD.
- ⚠Results should be interpreted in conjunction with clinical findings and other diagnostic tests.
- ⚠Genetic risk does not guarantee disease development.
Risks & Considerations
- ●Minor bruising or soreness at the blood draw site
- ●Rare risk of infection at the puncture site
- ●Fainting or dizziness in some individuals during blood draw
Interfering Factors
- ●Sample contamination
- ●Technical errors in PCR amplification
- ●Improper sample storage
Compare With Similar Tests
| Test | NAFLD - PNPLA3 & TM6SF2 Genotyping Test | Liver Function Test (LFT) | Abdominal Ultrasound | FibroScan | Liver Biopsy |
|---|---|---|---|---|---|
| Comparison | NAFLD - PNPLA3 & TM6SF2 Genotyping Test |
Frequently Asked Questions
What is the NAFLD PNPLA3 & TM6SF2 Genotyping Test?
Why is this test recommended?
How is the test performed?
What does a positive result mean?
Is fasting required for this test?
How much does the test cost?
Where can I get the test done?
Is home collection available?
How long does it take to get results?
Are there any risks with the test?
Can this test diagnose NAFLD?
Who should take this test?
What lifestyle modifications are recommended for individuals with positive genetic variants?
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₹27,000Reference 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.
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✓ 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.
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