SLC34A1 Gene Nephrolithiasis/osteoporosis, hypophosphatemic, type 1 NGS Genetic Test
Short Name: SLC34A1 Gene Test
Also known as: Hypophosphatemic Nephrolithiasis/Osteoporosis Type 1, HHRH1, SLC34A1-related disorder
SLC34A1 Gene Nephrolithiasis/osteoporosis, hypophosphatemic, 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 from sample collection.. 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 diagnose Hypophosphatemic Nephrolithiasis/Osteoporosis, Type 1 (HHRH1) by detecting mutations in the SLC34A1 gene, enabling targeted treatment and genetic counseling.
- Test Code
- 5461
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks from sample collection.
- Fasting Required
- No
- Method
- NGS Technology
Sample Collection
No specific preparation required. Provide clinical history and family pedigree during genetic counseling.
Method: Venipuncture
Laboratory Analysis
Blood sample will be collected via venipuncture by a trained phlebotomist.
Report Delivery
Apply pressure to the puncture site to stop bleeding. Keep the area clean.
Timeline: 3 to 4 weeks from sample collection.
Patient Instructions
About This Test
Who Should Get This Test
To diagnose Hypophosphatemic Nephrolithiasis/Osteoporosis, Type 1 (HHRH1) by detecting mutations in the SLC34A1 gene, enabling targeted treatment and genetic counseling.
How to Prepare
- Bring identification and prescription
- Inform about any medications or supplements
- Ensure sample is properly labeled
- Follow fasting instructions if specified
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"As a geneticist, I recommend this test for patients with symptoms of HHRH1 to confirm diagnosis, guide treatment, and provide genetic counseling for family planning."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed sample
- Insufficient volume
- Improperly labeled sample
- Contaminated sample
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of HHRH1. Genetic counseling and treatment planning recommended.
No pathogenic variant detected
HHRH1 unlikely, but clinical correlation needed. Consider other causes of symptoms.
Variant of uncertain significance (VUS)
Further testing or family studies may be required. Consult genetic counselor.
If symptoms persist, if genetic counseling is needed after receiving results, or if family members are at risk.
Limitations
- ⚠May not detect all types of mutations
- ⚠Results require genetic counseling
- ⚠Not a substitute for clinical diagnosis
- ⚠Limited to SLC34A1 gene analysis
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising or infection at puncture site
- ●Psychological impact of genetic results
Interfering Factors
- ●Poor sample quality
- ●Contamination
- ●Technical errors in sequencing
- ●Hemolyzed blood sample
Compare With Similar Tests
| Test | SLC34A1 Gene Nephrolithiasis/osteoporosis, hypophosphatemic, type 1 NGS Genetic Test | SLC34A3 Gene Test | FGF23 Level Test | Phosphate Level Test | Bone Density Scan |
|---|---|---|---|---|---|
| Comparison | SLC34A1 Gene Nephrolithiasis/osteoporosis, hypophosphatemic, type 1 NGS Genetic Test |
Frequently Asked Questions
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