MTR Gene Methylcobalamin deficiency CblG type NGS Genetic Test
Short Name: MTR Gene NGS Test
Also known as: CblG deficiency test, MTR gene mutation analysis, Methylcobalamin deficiency genetic test
MTR Gene Methylcobalamin deficiency CblG type 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 Reports delivered within 3 to 4 weeks after sample collection.. 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 identify mutations in the MTR gene associated with methylcobalamin deficiency CblG type for accurate diagnosis, carrier testing, and informed clinical management.
- Test Code
- 2160
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports delivered within 3 to 4 weeks after sample collection.
- Fasting Required
- No
- Method
- NGS Technology
Sample Collection
Provide clinical history and family pedigree chart as per pre-test requirements.
Method: Venipuncture or finger-prick
Laboratory Analysis
Blood sample collected via venipuncture or finger-prick under sterile conditions.
Report Delivery
Apply pressure to the puncture site; sample sent to lab for processing.
Timeline: Reports delivered within 3 to 4 weeks after sample collection.
Patient Instructions
About This Test
Who Should Get This Test
To identify mutations in the MTR gene associated with methylcobalamin deficiency CblG type for accurate diagnosis, carrier testing, and informed clinical management.
How to Prepare
- Ensure patient is relaxed
- Use aseptic technique
- Label sample correctly
- Store at room temperature if using FTA card
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic testing for MTR gene mutations is essential for diagnosing CblG type methylcobalamin deficiency, allowing timely intervention and personalized management to prevent complications."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Incorrect labeling
- Insufficient sample volume
Understanding Your Results
Pathogenic variant detected
Confirms MTR gene mutation; diagnose CblG deficiency and initiate treatment.
Likely pathogenic variant detected
High probability of mutation; clinical correlation and further testing recommended.
Variant of uncertain significance (VUS)
Uncertain clinical impact; monitor symptoms and consider repeat testing.
No pathogenic variants detected
MTR gene mutation not identified; evaluate other potential causes.
Likely benign variant detected
Low probability of disease association; no immediate action needed.
Benign variant detected
Normal variant; no clinical significance for CblG deficiency.
Consult a doctor if you or your child exhibit symptoms like developmental delays, seizures, or neurological issues, or if there is a family history of methylcobalamin deficiency.
Limitations
- ⚠May not detect all possible MTR gene variants
- ⚠Requires genetic counseling for interpretation
- ⚠Results are not diagnostic alone; clinical correlation needed
Risks & Considerations
- ●Minor bruising or pain at puncture site
- ●Very low risk of infection
- ●Emotional impact of results; counseling provided
Interfering Factors
- ●Sample contamination
- ●Degraded DNA quality
- ●Recent blood transfusion
Compare With Similar Tests
| Test | MTR Gene Methylcobalamin deficiency CblG type NGS Genetic Test | MMACHC Gene Test | MTRR Gene Test | Homocysteine Level Test | Vitamin B12 Level Test |
|---|---|---|---|---|---|
| Comparison | MTR Gene Methylcobalamin deficiency CblG type NGS Genetic Test | Focuses on cblC deficiency, a different cobalamin disorder. | Detects mutations in MTRR gene, involved in B12 metabolism but distinct from MTR. | Measures homocysteine levels; elevated in CblG deficiency but not gene-specific. | Assesses B12 levels; may be normal in CblG deficiency due to functional impairment. |
Frequently Asked Questions
What is MTR Gene Methylcobalamin Deficiency CblG Type?
How is the NGS Genetic Test performed?
What are the symptoms of CblG deficiency?
Who should consider this genetic test?
What is the cost of the test in India?
How long does it take to receive results?
Is genetic counseling included?
What do a positive result indicate?
Is the test covered by insurance?
Are there any risks associated with the test?
How accurate is the NGS genetic test?
What treatments are available for CblG deficiency?
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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.
Your Data Privacy
Your medical data is protected under Indian law.
✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.
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