CYP2R1 Gene Rickets, vitamin D 25-hydroxylation-deficient, type 1B NGS Genetic Test
Short Name: CYP2R1 Gene Rickets NGS Test
Also known as: Vitamin D 25-hydroxylation-deficient rickets type 1B, CYP2R1-related rickets
CYP2R1 Gene Rickets, vitamin D 25-hydroxylation-deficient, type 1B 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. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 3, 2026
Overview
To diagnose CYP2R1 gene rickets by identifying mutations in the CYP2R1 gene through next-generation sequencing, enabling targeted treatment and management.
- Test Code
- 2475
- 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
- Next-Generation Sequencing (NGS)
Sample Collection
Genetic counselling recommended. Provide clinical history of patient.
Method: Venipuncture or finger prick
Laboratory Analysis
Blood sample collected via venipuncture or finger prick.
Report Delivery
Sample sent to laboratory for DNA extraction and analysis.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To diagnose CYP2R1 gene rickets by identifying mutations in the CYP2R1 gene through next-generation sequencing, enabling targeted treatment and management.
How to Prepare
- Fasting not required
- Use sterile collection tubes
- Label samples correctly with patient details
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early diagnosis through genetic testing can guide treatment and prevent complications in CYP2R1 gene rickets."
Last medically reviewed: September 3, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed samples
- Insufficient sample volume
- Improperly labeled samples
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of CYP2R1 gene rickets. Genetic counselling and treatment planning recommended.
No pathogenic variant detected
CYP2R1 gene rickets unlikely. Consider other causes of rickets or vitamin D deficiency.
If symptoms of rickets are present, such as bone pain or delayed growth, or if there is a family history of genetic bone disorders.
Limitations
- ⚠May not detect all possible mutations
- ⚠Requires genetic counselling for interpretation
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising or infection
- ●Genetic testing may have psychological or familial implications
Interfering Factors
- ●Sample contamination
- ●Degraded DNA
Compare With Similar Tests
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|---|---|---|---|---|---|
| Comparison | CYP2R1 Gene Rickets, vitamin D 25-hydroxylation-deficient, type 1B NGS Genetic Test |
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