MTHFR Gene Homocystinuria NGS Genetic Test
Short Name: MTHFR Homocystinuria NGS Test
Also known as: MTHFR Gene Test, Homocystinuria Genetic Test, MTHFR NGS Test
MTHFR Gene Homocystinuria 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
The purpose of the MTHFR Gene Homocystinuria NGS Genetic Test is to identify mutations in the MTHFR gene that cause homocystinuria, aiding in accurate diagnosis, risk assessment, and management of the disorder.
- Test Code
- 5325
- 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
No special preparation is required. Ensure proper identification and documentation.
Method: Venipuncture
Laboratory Analysis
A blood sample will be collected via venipuncture from a vein in the arm.
Report Delivery
Apply pressure to the puncture site with a cotton ball to stop bleeding. Avoid strenuous activity for a short period.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the MTHFR Gene Homocystinuria NGS Genetic Test is to identify mutations in the MTHFR gene that cause homocystinuria, aiding in accurate diagnosis, risk assessment, and management of the disorder.
How to Prepare
- Ensure proper sample labeling with patient details.
- Use sterile collection equipment.
- For FTA card, follow specific instructions for blood drop application.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic testing for MTHFR mutations can help in timely management of homocystinuria, preventing complications like cardiovascular disease and developmental delays."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample.
- Insufficient sample volume.
- Improperly labeled or contaminated samples.
Understanding Your Results
Positive
Pathogenic mutation detected in the MTHFR gene, indicating homocystinuria risk. Consult a genetic counselor for management.
Negative
No pathogenic variants detected in the MTHFR gene. Clinical correlation is recommended if symptoms persist.
Variant of Uncertain Significance (VUS)
A genetic variant was found but its clinical significance is unknown. Further testing and monitoring may be needed.
If you or a family member exhibit symptoms of homocystinuria, such as developmental delays, seizures, or cardiovascular issues, or if there is a family history of the disorder, consult a healthcare provider for genetic testing and counseling.
Limitations
- ⚠This test only detects mutations in the MTHFR gene; other genetic causes of homocystinuria may not be identified.
- ⚠Results should be interpreted in conjunction with clinical and biochemical findings.
- ⚠Does not rule out all genetic disorders.
Risks & Considerations
- ●Minimal physical risks from blood draw, such as bruising or infection.
- ●Potential emotional impact from test results.
- ●Privacy concerns regarding genetic data.
Interfering Factors
- ●Degraded or insufficient DNA sample may affect test accuracy.
- ●Contamination during sample collection or processing.
Compare With Similar Tests
| Test | MTHFR Gene Homocystinuria NGS Genetic Test | Homocysteine Blood Test | MTHFR Mutation Panel | Genetic Counseling Session |
|---|---|---|---|---|
| Comparison | MTHFR Gene Homocystinuria NGS Genetic Test | Measures homocysteine levels biochemically; MTHFR NGS test identifies genetic mutations. | May test for specific common mutations; NGS provides comprehensive sequencing of the entire gene. | Supportive service for interpreting results and family planning; not a diagnostic test. |
Frequently Asked Questions
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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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