XDH Gene Xanthinuria type 1 NGS Genetic Test
Short Name: XDH Xanthinuria Type 1 NGS Test
Also known as: XDH deficiency, Xanthine dehydrogenase deficiency
XDH Gene Xanthinuria 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 SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
To diagnose Xanthinuria type 1 by detecting mutations in the XDH gene using NGS technology, aiding in clinical management and genetic counseling.
- Test Code
- 2277
- 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
Genetic counseling session to discuss test implications and draw a pedigree chart of family members affected with Xanthinuria type 1.
Method: Venipuncture or FTA card collection
Laboratory Analysis
Standard blood draw or FTA card collection by a trained phlebotomist.
Report Delivery
Sample is processed and analyzed in the lab using NGS technology.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To diagnose Xanthinuria type 1 by detecting mutations in the XDH gene using NGS technology, aiding in clinical management and genetic counseling.
How to Prepare
- Provide detailed clinical history of the patient
- Attend a genetic counseling session before sample collection
- Ensure proper identification and labeling of sample
- Follow home collection guidelines if applicable
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic testing for Xanthinuria type 1 can guide management and prevent complications like kidney stones, especially in families with a history of the disorder."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Insufficient sample volume
- Incorrect sample labeling
- Contaminated samples
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of Xanthinuria type 1; genetic counseling recommended.
No pathogenic variant detected
Xanthinuria type 1 unlikely based on genetic testing; consider other diagnoses.
Variant of uncertain significance
Further testing or family studies may be needed for clarity.
If you experience symptoms like recurrent kidney stones, muscle weakness, or joint pain, or have a family history of Xanthinuria, consult a healthcare provider for evaluation and possible genetic testing.
Limitations
- ⚠May not detect all types of mutations, such as large deletions or rearrangements
- ⚠Results require interpretation by a geneticist
- ⚠Not a standalone diagnostic tool; clinical correlation is needed
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising or infection
- ●Psychological impact of genetic results
Interfering Factors
- ●Poor sample quality or contamination
- ●Hemolyzed blood samples
- ●Insufficient DNA quantity
- ●Technical errors in NGS sequencing
Compare With Similar Tests
| Test | XDH Gene Xanthinuria type 1 NGS Genetic Test | Uric acid level test | Enzyme activity assay | Sanger sequencing |
|---|---|---|---|---|
| Comparison | XDH Gene Xanthinuria type 1 NGS Genetic Test |
Frequently Asked Questions
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