GRHPR Gene Hyperoxaluria type 2 NGS Genetic Test
Short Name: GRHPR Hyperoxaluria Type 2 NGS Test
Also known as: Primary Hyperoxaluria Type 2, Glyoxylate Reductase/Hydroxypyruvate Reductase Deficiency
GRHPR Gene Hyperoxaluria type 2 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 3 to 4 weeks from sample receipt. 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 mutations in the GRHPR gene to confirm a diagnosis of hyperoxaluria type 2, guide treatment decisions, enable family screening, and facilitate genetic counselling. It helps in understanding the genetic basis of the condition and assessing the risk of kidney complications.
- Test Code
- 2095
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks from sample receipt
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
Genetic counselling session recommended to draw a pedigree chart. Provide clinical history of the patient and family members affected with hyperoxaluria type 2.
Method: Venipuncture or finger prick for FTA card
Laboratory Analysis
Blood sample collected via venipuncture or finger prick for FTA card. Ensure proper labeling and aseptic technique.
Report Delivery
Store samples at ambient room temperature as per instructions. Ship to laboratory promptly for processing.
Timeline: 3 to 4 weeks from sample receipt
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify mutations in the GRHPR gene to confirm a diagnosis of hyperoxaluria type 2, guide treatment decisions, enable family screening, and facilitate genetic counselling. It helps in understanding the genetic basis of the condition and assessing the risk of kidney complications.
How to Prepare
- Use EDTA tube for blood or FTA card for one-drop blood collection
- Label samples with patient details and test name
- Avoid hemolysis by gentle mixing
- Transport at room temperature without refrigeration
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early diagnosis through genetic testing is crucial for managing hyperoxaluria type 2 and preventing kidney complications such as stones and chronic kidney disease."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Insufficient sample volume
- Incorrect labeling or missing documentation
- Samples stored in inappropriate conditions
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of hyperoxaluria type 2. Recommend genetic counselling, renal monitoring, and treatment planning.
No pathogenic variants detected
Reduced likelihood of GRHPR-related hyperoxaluria. Consider other genetic or metabolic causes if symptoms persist.
Variant of uncertain significance
Further family studies and functional analysis may be needed. Clinical correlation is essential.
Consult a nephrologist or geneticist immediately if test results are positive, or if symptoms like recurrent kidney stones, abdominal pain, or blood in urine occur. Early intervention can prevent kidney damage.
Limitations
- ⚠May not detect all possible GRHPR gene variants, including large deletions or duplications
- ⚠Results require interpretation by a geneticist or qualified physician
- ⚠Does not replace clinical evaluation and urine oxalate testing
- ⚠Genetic counselling is recommended before and after testing
Risks & Considerations
- ●Minimal risk from blood draw: bruising, infection, or discomfort
- ●Genetic testing may have psychological implications; counselling provided
Interfering Factors
- ●Contaminated or degraded DNA samples
- ●Hemolyzed blood samples
- ●Recent blood transfusions
- ●Improper sample storage or handling
Compare With Similar Tests
| Test | GRHPR Gene Hyperoxaluria type 2 NGS Genetic Test | Urine Oxalate Test | Kidney Function Test | Sanger Sequencing | Biopsy |
|---|---|---|---|---|---|
| Comparison | GRHPR Gene Hyperoxaluria type 2 NGS Genetic Test |
Frequently Asked Questions
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