SLC9A3R1 Gene Nephrolithiasis/osteoporosis, hypophosphatemic, type 2 NGS Genetic Test
Short Name: SLC9A3R1 NGS Genetic Test
Also known as: SLC9A3R1-related hypophosphatemia, Hereditary nephrolithiasis with osteoporosis
SLC9A3R1 Gene Nephrolithiasis/osteoporosis, hypophosphatemic, type 2 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 SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of the SLC9A3R1 Gene NGS Genetic Test is to diagnose Nephrolithiasis/Osteoporosis, Hypophosphatemic, Type 2 by identifying mutations in the SLC9A3R1 gene. It helps confirm clinical suspicion, identify carriers, assess the risk of passing the condition to offspring, and guide personalized treatment plans to manage symptoms and prevent disease progression.
- Test Code
- 5065
- 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
No specific preparation is required, but provide clinical history and family pedigree during genetic counseling. Ensure proper identification and consent.
Method: Venipuncture or FTA card application
Laboratory Analysis
A blood sample will be drawn from a vein in the arm using a sterile needle, or a saliva sample may be collected using a kit. For FTA card, a drop of blood is applied.
Report Delivery
Apply pressure to the puncture site to prevent bleeding. Store samples as instructed and transport to the lab promptly. Resume normal activities.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the SLC9A3R1 Gene NGS Genetic Test is to diagnose Nephrolithiasis/Osteoporosis, Hypophosphatemic, Type 2 by identifying mutations in the SLC9A3R1 gene. It helps confirm clinical suspicion, identify carriers, assess the risk of passing the condition to offspring, and guide personalized treatment plans to manage symptoms and prevent disease progression.
How to Prepare
- Fast for 8-12 hours if specified, though not typically required for this test
- Avoid strenuous exercise before sample collection
- Bring identification and prescription or referral letter
- Inform the phlebotomist of any medications or health conditions
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This genetic test is essential for early diagnosis and management of hereditary conditions affecting bone and kidney health, especially in families with a history of hypophosphatemia."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed, clotted, or insufficient sample volume
- Incorrect sample type or container
- Missing patient identification or consent
- Sample exposed to extreme temperatures
Understanding Your Results
No pathogenic variants detected
Negative result; does not rule out other genetic causes. Clinical correlation recommended.
Pathogenic variant detected
Confirms diagnosis of SLC9A3R1-related disorder. Carrier testing for family members advised.
Variant of uncertain significance (VUS)
Further testing or family studies may be needed. Genetic counseling recommended.
Likely pathogenic variant
Strong evidence for disease association; management should consider this result.
Consult a doctor if you experience symptoms like recurrent kidney stones, bone pain, or muscle weakness, or if you have a family history of hypophosphatemic disorders. After receiving test results, seek genetic counseling for personalized advice.
Limitations
- ⚠May not detect all types of mutations, such as large deletions or duplications
- ⚠Results require clinical correlation and should not be used in isolation for diagnosis
- ⚠Genetic variants of uncertain significance (VUS) may be identified, necessitating further evaluation
- ⚠Test does not assess for other genetic causes of similar symptoms
Risks & Considerations
- ●Minor bruising or discomfort at the blood draw site
- ●Very low risk of infection or fainting
- ●Psychological impact of genetic results; counseling is provided
Interfering Factors
- ●Sample contamination during collection or transport
- ●Improper sample storage leading to DNA degradation
- ●Recent blood transfusions affecting DNA analysis
- ●Hemolyzed or lipemic samples
Compare With Similar Tests
| Test | SLC9A3R1 Gene Nephrolithiasis/osteoporosis, hypophosphatemic, type 2 NGS Genetic Test | SLC34A3 Gene Test | PHEX Gene Test | Comprehensive Metabolic Panel | Whole Exome Sequencing |
|---|---|---|---|---|---|
| Comparison | SLC9A3R1 Gene Nephrolithiasis/osteoporosis, hypophosphatemic, type 2 NGS Genetic Test | Focuses on a different gene associated with hypophosphatemic rickets; may be used for differential diagnosis. | Targets X-linked hypophosphatemia; useful for distinguishing from SLC9A3R1-related conditions. | Non-genetic test measuring blood phosphorus and calcium levels; less specific for genetic diagnosis. | Broader genetic test that may identify mutations in multiple genes; higher cost and longer turnaround time. |
Frequently Asked Questions
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