MOCS2 Gene Molybdenum cofactor deficiency type B NGS Genetic Test
Short Name: MOCS2 Gene Molybdenum Cofactor Deficiency Type B Test
Also known as: MOCS2 deficiency, Molybdenum cofactor deficiency type B, Molybdenum cofactor deficiency B
MOCS2 Gene Molybdenum cofactor deficiency type B 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 diagnose Molybdenum Cofactor Deficiency Type B by detecting mutations in the MOCS2 gene through NGS technology, enabling early intervention, genetic counselling, and family planning for affected individuals.
- Test Code
- 2176
- 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
No specific preparation required. Provide clinical history and family pedigree during genetic counselling.
Method: Venipuncture or Finger prick for FTA Card
Laboratory Analysis
Blood sample drawn via venipuncture or a drop on FTA card. Minimal discomfort similar to routine blood test.
Report Delivery
Apply pressure to the puncture site to prevent bruising. Resume normal activities immediately.
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 diagnose Molybdenum Cofactor Deficiency Type B by detecting mutations in the MOCS2 gene through NGS technology, enabling early intervention, genetic counselling, and family planning for affected individuals.
How to Prepare
- Ensure proper identification and labelling of samples
- Follow aseptic techniques
- Store samples at ambient temperature if not processed immediately
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic testing for MOCS2 gene mutations is crucial for timely diagnosis and management of Molybdenum Cofactor Deficiency Type B, a rare metabolic disorder with severe neurological implications."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Insufficient sample volume
- Contaminated samples
Understanding Your Results
Positive for pathogenic variants
Confirms diagnosis of Molybdenum Cofactor Deficiency Type B. Genetic counselling and management strategies recommended.
Negative for pathogenic variants
No mutations detected in MOCS2 gene. Consider other causes or additional testing if clinical suspicion remains.
Variant of uncertain significance (VUS)
Genetic variant identified but clinical significance unknown. Repeat testing or family studies may be needed.
Consult a doctor if the individual exhibits symptoms such as seizures, developmental delays, or if there is a family history of metabolic disorders. Genetic counselling is advised post-test.
Limitations
- ⚠May not detect all types of mutations (e.g., large deletions)
- ⚠Does not assess other genes involved in molybdenum cofactor synthesis
- ⚠Results require correlation with clinical presentation
Risks & Considerations
- ●Minor bruising or discomfort at puncture site
- ●Rare risk of infection
- ●Psychological impact of results
Interfering Factors
- ●Sample contamination
- ●Degraded DNA quality
- ●Hemolyzed blood samples
Compare With Similar Tests
| Test | MOCS2 Gene Molybdenum cofactor deficiency type B NGS Genetic Test | MOCS1 Gene Test | Sulfite Oxidase Deficiency Test | Comprehensive Metabolic Panel |
|---|---|---|---|---|
| Comparison | MOCS2 Gene Molybdenum cofactor deficiency type B NGS Genetic Test |
Frequently Asked Questions
What is MOCS2 Gene Molybdenum Cofactor Deficiency Type B?
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Reference Laboratory Services
We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.
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