MOCOS Gene Xanthinuria type 2 NGS Genetic Test
Also known as: MOCOS-related Xanthinuria, Xanthinuria Type II
MOCOS Gene Xanthinuria 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
To detect mutations in the MOCOS gene for the diagnosis of Xanthinuria type 2, aiding in clinical management and genetic counseling.
- Test Code
- 2280
- 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
Clinical history of patient and a genetic counseling session to draw a pedigree chart of family members affected with Xanthinuria type 2.
Method: Venipuncture or FTA card
Laboratory Analysis
Standard blood draw via venipuncture or collection of a blood drop on an FTA card.
Report Delivery
Sample is sent to the laboratory for NGS analysis and DNA sequencing.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To detect mutations in the MOCOS gene for the diagnosis of Xanthinuria type 2, aiding in clinical management and genetic counseling.
How to Prepare
- Ensure proper patient identification and labeling
- Use sterile techniques to avoid contamination
- For blood samples, avoid hemolysis by gentle mixing
- FTA cards should be stored at room temperature until processing
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Consulting a genetic specialist is crucial for accurate diagnosis and management of Xanthinuria Type 2, especially for family planning and symptom prevention."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Incorrect sample type or insufficient volume
- Mislabeled or unlabeled samples
- Contaminated samples
Understanding Your Results
Positive for pathogenic variant
Confirms diagnosis of Xanthinuria type 2. Recommend genetic counseling, symptom management, and monitoring for kidney complications.
Negative for pathogenic variant
No pathogenic MOCOS mutations detected. Consider other diagnostic tests for xanthinuria or related disorders if symptoms persist.
Variant of uncertain significance (VUS)
Genetic variant found but clinical significance unknown. Further family studies and clinical correlation recommended.
Consult a doctor if experiencing symptoms like recurrent kidney stones, abdominal pain, or blood in urine, or if there is a family history of xanthinuria or genetic metabolic disorders.
Limitations
- ⚠Test only identifies variants in the MOCOS gene; does not detect other genetic causes of xanthinuria
- ⚠Requires genetic counseling for accurate interpretation
- ⚠False negatives possible if novel mutations are not covered by the assay
Risks & Considerations
- ●Minimal risk from blood draw, such as slight pain or bruising
- ●Psychological impact from genetic results; addressed through counseling
- ●Potential for genetic discrimination; mitigated by privacy laws and counseling
Interfering Factors
- ●Degraded DNA sample due to improper storage
- ●Contamination during sample collection or handling
- ●Low-quality blood sample affecting DNA extraction
Compare With Similar Tests
| Test | MOCOS Gene Xanthinuria type 2 NGS Genetic Test | Urine Xanthine Test | MOCOS Gene Sanger Sequencing | Kidney Function Tests | Genetic Counseling Panel |
|---|---|---|---|---|---|
| Comparison | MOCOS Gene Xanthinuria type 2 NGS Genetic Test |
Frequently Asked Questions
What is Xanthinuria Type 2?
What causes Xanthinuria Type 2?
What are the symptoms of Xanthinuria Type 2?
How is Xanthinuria Type 2 diagnosed?
What is the MOCOS Gene NGS Genetic Test?
What sample is required for the test?
How much does the test cost in India?
Is home sample collection available?
How long does it take to get the results?
What should I do if the test is positive?
Is genetic counseling recommended?
Can Xanthinuria Type 2 be treated?
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