MTRR Gene Spina bifida folate sensitive NGS Genetic Test
Short Name: MTRR Spina Bifida NGS
Also known as: MTRR Gene Mutation Test, Folate Metabolism Genetic Test, Spina Bifida Risk Assessment
MTRR Gene Spina bifida folate sensitive 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 at the laboratory.. 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 identify mutations in the MTRR gene that may increase susceptibility to folate-sensitive spina bifida. It aids in risk assessment for individuals with a family history of neural tube defects, couples planning pregnancy, and patients with unexplained folate metabolism issues. The results can guide folate supplementation, prenatal screening, and reproductive counseling.
- Test Code
- 5938
- CPT Code
- 81405
- ICD Code
- Q05.9
- 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 at the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation required. Inform your healthcare provider about any medications or supplements, especially folate, as they may influence interpretation.
Method: Venipuncture or Fingerstick
Laboratory Analysis
A blood sample will be drawn from a vein in your arm. If using FTA card, a simple fingerstick is performed.
Report Delivery
No restrictions. You can resume normal activities immediately.
Timeline: 3 to 4 weeks from sample receipt at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify mutations in the MTRR gene that may increase susceptibility to folate-sensitive spina bifida. It aids in risk assessment for individuals with a family history of neural tube defects, couples planning pregnancy, and patients with unexplained folate metabolism issues. The results can guide folate supplementation, prenatal screening, and reproductive counseling.
How to Prepare
- For blood sample: Use EDTA vacutainer, fill to indicated mark, mix gently.
- For FTA card: Apply one drop of blood onto the designated circle, allow to air dry.
- Label the sample with patient name, date, and time of collection.
- Transport at ambient temperature (15-30°C) within 24 hours.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early identification of MTRR mutations can guide folate supplementation and prenatal management, potentially reducing the risk of neural tube defects."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improperly labeled sample
- Sample received after prolonged storage without proper temperature
Understanding Your Results
No pathogenic variants detected
No increased genetic risk for folate-sensitive spina bifida identified through MTRR gene analysis.
Recommendation: Continue standard prenatal care and folate supplementation as recommended.
Pathogenic or Likely Pathogenic variant detected
Presence of a mutation that may impair folate metabolism, increasing risk of neural tube defects.
Recommendation: Consult a genetic counselor and obstetrician for personalized folate supplementation (e.g., higher dose) and prenatal monitoring.
Variant of Uncertain Significance (VUS)
A genetic variant was found, but its impact on health is currently unknown.
Recommendation: Further family studies or functional assays may be needed. Discuss with a genetic counselor.
Consult a healthcare provider if you have a family history of spina bifida, have had a previous child with a neural tube defect, or are planning pregnancy and want to assess your genetic risk.
Limitations
- ⚠This test only analyzes the MTRR gene; other genes may also contribute to spina bifida risk
- ⚠Variants of uncertain significance (VUS) may be reported and require further investigation
- ⚠Does not detect large deletions/duplications or deep intronic variants
- ⚠Not a diagnostic test for spina bifida; it assesses genetic risk only
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of learning genetic risk
- ●Potential for uncertain results (VUS)
Interfering Factors
- ●Recent blood transfusion (within 2 weeks) may dilute DNA
- ●Bone marrow transplant can affect results
- ●Contaminated or degraded DNA samples
- ●Incorrect sample storage or transport
Compare With Similar Tests
| Test | MTRR Gene Spina bifida folate sensitive NGS Genetic Test | MTHFR Gene Mutation Test | Folate Metabolism Panel (MTHFR + MTRR) | Whole Exome Sequencing |
|---|---|---|---|---|
| Comparison | MTRR Gene Spina bifida folate sensitive NGS Genetic Test |
Frequently Asked Questions
What is the MTRR gene and its role in spina bifida?
Who should consider this genetic test?
What is the cost of the MTRR gene spina bifida NGS test in India?
What sample is required for the test?
How long does it take to get results?
Does the test require fasting?
Will I receive raw data files?
What does a positive result mean?
Can this test be done during pregnancy?
Is home sample collection available?
What is the difference between MTRR and MTHFR gene testing?
Are there any risks associated with the test?
Related Tests
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.
Book Your Test
Enter your details and we'll connect you within 15 minutes.