Test Price
600 AED✅ Home Collection Available
MTHFR Gene Mutation Qualitative PCR Test – Genetic Risk Stratification & Thrombophilia Screening
Executive Summary & Core Metrics
Executive Summary
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (8 AM – 11 PM, daily).
- Clinical Guidance: Telephonic Post-Test Result Interpretation by Consultant Medical Geneticist.
- Insurance: Direct Billing Verification via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The MTHFR Gene Mutation Qualitative PCR Test identifies the two most clinically relevant variants—C677T and A1298C—in the methylenetetrahydrofolate reductase gene. These variants modulate homocysteine metabolism and are established risk factors for venous thromboembolism, recurrent pregnancy loss, and adverse cardiovascular outcomes. This assay provides definitive genotypic classification to guide personalized folate supplementation and thrombophilia risk management.
| Feature | MTHFR Genotyping PCR | Homocysteine (Serum) Test |
|---|---|---|
| Methodology | Real-Time PCR (qPCR) – Allele-Specific Genotyping | Immunoassay / Enzymatic |
| Precision | >99.9% for C677T and A1298C Variants | Variable, influenced by diet and vitamin status |
| Clinical Insight | Direct genetic risk stratification | Functional marker reflecting transient methylation status |
| Turnaround Time | 4 Days | 1 Day |
Physician Insight & Safety Protocols
“As your Consultant Medical Geneticist (DHA: 9294403), I want to emphasize that an MTHFR variant is one piece of your genetic profile—not a standalone diagnosis. The C677T and A1298C variants modulate enzyme efficiency but require correlation with homocysteine levels, family history, and clinical presentation. I recommend a teleconsultation for personalized risk interpretation and folate supplementation guidance.” — Lina Osama Zaki Quteineh, Consultant Medical Genetics
Advisory Notice
Do not discontinue or alter any prescribed anticoagulant, antiplatelet, or folate-based therapy without explicit consultation with your treating physician. Abrupt cessation may increase thromboembolic risk. Always carry a current medication list to your appointment.
Safety & Exclusion Criteria
- Not recommended within 4 weeks of blood transfusion, bone marrow transplant, or major surgical procedure.
- Defer testing during acute febrile illness or active infection; reschedule upon complete recovery.
- Patients on chronic anticoagulation therapy should discuss periprocedural management with their clinician before sample collection.
- Emergency Warning: Sudden unilateral limb swelling, chest pain, dyspnea, or visual changes require immediate emergency department evaluation.
Patient FAQ & Clinical Guidance
1. What are the common MTHFR gene mutations tested?
This PCR test detects the two main clinically significant MTHFR gene variants: C677T and A1298C. The C677T variant reduces enzyme activity by up to 70% in homozygous carriers, while A1298C has a milder impact. Both are routinely reported to guide thrombophilia assessment and prenatal planning.
2. How does an MTHFR mutation affect my health?
MTHFR mutations may reduce enzyme activity, elevating homocysteine and increasing clotting risk and pregnancy complications. This can lead to deep vein thrombosis, recurrent miscarriage, and cardiovascular events, but many carriers remain asymptomatic unless other risk factors coexist. Genotyping helps clarify your personal risk profile.
3. Do I need to prepare for the MTHFR PCR blood test?
No special preparation is required; however, the mandatory Genomics Form 20 must be completed accurately. Provide your full medical history, current medications, and family history of clotting disorders. Home collection is available daily from 8 AM to 11 PM with our temperature-controlled courier service.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance & Data Protection
- All genetic data encrypted and stored exclusively on UAE-based servers in full compliance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL).
- Health information handling adheres to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields.
- Clinical safety and patient consent governed by Federal Decree-Law No. 4 of 2016 on Medical Liability.
- ISO 9001:2015 Certified Medical Laboratory (Cert: INT/EGQ/2509DA/3139).
Clinical & Logistical Metadata
| Test Name | MTHFR Gene Mutation Qualitative PCR Test (C677T & A1298C) |
| Price (AED) | 600 |
| Turnaround Time | 4 Days |
| Sample Type / Matrix | Whole Blood (Peripheral Venipuncture) |
| Methodology Used | Real-Time PCR (qPCR) – Allele-Specific Genotyping |
| ICD-10-CM Code | Z13.6, Z13.29, Z15.89 |
| LOINC Code | 21693-6 |
| DHA Facility License & Address | License No. 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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