SLC22A12 Gene Hypouricemia, renal type 1 NGS Genetic Test
Short Name: SLC22A12 Hypouricemia Test
Also known as: Renal Hypouricemia Type 1, SLC22A12 Mutation Test, Familial Renal Hypouricemia
SLC22A12 Gene Hypouricemia, renal type 1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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 SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 3, 2026
Overview
The purpose of this test is to diagnose SLC22A12 gene mutations causing renal hypouricemia, enabling early detection, family screening, and informed management of uric acid-related disorders to prevent kidney damage and other complications.
- Test Code
- 2601
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 Weeks
- Fasting Required
- No
- Method
- NGS Technology
Sample Collection
Provide clinical history and undergo genetic counseling to draw a pedigree chart. No specific fasting is required, but follow general blood draw guidelines.
Method: Venipuncture or FTA Card Spot
Laboratory Analysis
A blood sample will be collected via venipuncture or using an FTA card for one drop of blood. Ensure proper identification and sample labeling.
Report Delivery
Apply pressure to the puncture site to prevent bruising. Store the sample at ambient room temperature as instructed.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to diagnose SLC22A12 gene mutations causing renal hypouricemia, enabling early detection, family screening, and informed management of uric acid-related disorders to prevent kidney damage and other complications.
How to Prepare
- Ensure patient identification is correct
- Use sterile equipment for blood collection
- Label the sample container with patient details
- Transport the sample to the lab within the specified stability period
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"This NGS genetic test is essential for diagnosing SLC22A12 mutations causing renal hypouricemia, helping to prevent complications like kidney stones and gout through early intervention."
Last medically reviewed: September 3, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Insufficient sample volume
- Incorrect sample type or container
- Missing patient information
Understanding Your Results
Positive for pathogenic variant
Confirms SLC22A12 gene mutation; diagnosis of renal hypouricemia type 1. Recommend genetic counseling and nephrology consultation.
Negative for pathogenic variant
No mutations detected in the SLC22A12 gene. Consider other causes of hypouricemia if symptoms persist.
Variant of uncertain significance (VUS)
A genetic variant was found but its clinical significance is unknown. Further testing and family studies may be needed.
Consult a doctor if you have symptoms like low uric acid, kidney stones, or gout, or if there is a family history of renal hypouricemia. After testing, discuss results with a genetic counselor or nephrologist for management.
Limitations
- ⚠May not detect all possible mutations in the SLC22A12 gene
- ⚠Results require interpretation by a genetic specialist
- ⚠Does not rule out other genetic or non-genetic causes of hypouricemia
- ⚠Limited to known variants in the gene
Risks & Considerations
- ●Minor bruising or pain at blood draw site
- ●Very low risk of infection
- ●Emotional impact of genetic results
Interfering Factors
- ●Sample contamination
- ●Degraded DNA quality
- ●Incorrect sample storage
- ●Hemolyzed blood samples
Compare With Similar Tests
| Test | SLC22A12 Gene Hypouricemia, renal type 1 NGS Genetic Test | Serum Uric Acid Test | 24-Hour Urine Uric Acid Test | SLC22A12 Gene Sequencing | Whole Exome Sequencing |
|---|---|---|---|---|---|
| Comparison | SLC22A12 Gene Hypouricemia, renal type 1 NGS Genetic Test |
Frequently Asked Questions
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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.
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