jamunjar-logo
whatsapp
cartmembermenu
Search for
"test & packages"
"physiotherapy"
"heart"
"lungs"
"diabetes"
"kidney"
"liver"
"cancer"
"thyroid"
"bones"
"fever"
"vitamin"
"iron"
"HTN"

MTHFR C677T/A1298C Mutations

Genetic
image

Report in 240Hrs

image

At Home

nofastingrequire

No Fasting Required

Details

Genetic polymorphism test.

₹8,140₹11,629

30% OFF

MTHFR C677T/A1298C Mutations - Comprehensive Medical Test Guide

  • Why is it done?
    • Detects mutations in the MTHFR (methylenetetrahydrofolate reductase) gene, which encodes an enzyme critical for folate metabolism and DNA methylation processes
    • Identifies C677T and A1298C polymorphisms that may affect enzyme function and homocysteine metabolism
    • Evaluates risk for elevated homocysteine levels (hyperhomocysteinemia) and associated cardiovascular complications
    • Assesses predisposition to neural tube defects, recurrent pregnancy loss, and thrombotic disorders
    • Indicated for patients with elevated homocysteine, history of thrombosis, recurrent miscarriages, or family history of MTHFR-related disorders
    • Used to guide supplementation decisions and personalize treatment strategies for cardiovascular and reproductive health
    • May be performed during preconception counseling, prenatal screening, or evaluation of thrombophilia
  • Normal Range
    • MTHFR C677T Mutation: Two normal alleles (CC) = Wild-type/Normal; One mutant allele (CT) = Heterozygous; Two mutant alleles (TT) = Homozygous
    • MTHFR A1298C Mutation: Two normal alleles (AA) = Wild-type/Normal; One mutant allele (AC) = Heterozygous; Two mutant alleles (CC) = Homozygous
    • Interpretation:
    • Negative/Normal Result: No mutations detected in C677T or A1298C positions; individual has two normal alleles at each locus
    • Heterozygous: One mutant allele and one normal allele; modest reduction in MTHFR enzyme activity (approximately 35% reduction for C677T)
    • Homozygous: Two mutant alleles; significant reduction in enzyme activity (approximately 65-70% reduction for C677T); greater potential for elevated homocysteine
    • Compound Heterozygous: One C677T mutation and one A1298C mutation; intermediate enzyme reduction with variable clinical significance
    • Units of Measurement: Genetic testing reported as genotype (allelic status), not numerical values
  • Interpretation
    • C677T Homozygous (TT):
    • Most significant reduction in enzyme activity; enzyme function reduced to approximately 30% of normal; greatest risk for elevated homocysteine levels; studies show 2-3 fold increased risk of venous thromboembolism; associated with increased cardiovascular event risk
    • C677T Heterozygous (CT):
    • Moderate enzyme reduction to approximately 65% of normal; mildly elevated homocysteine possible, especially with nutritional deficiencies or other risk factors; modest increased thrombotic risk
    • A1298C Homozygous (CC):
    • Produces approximately 60% of normal enzyme activity; less severe than C677T homozygous; variable clinical manifestations; homocysteine elevation less consistent than with C677T TT genotype
    • A1298C Heterozygous (AC):
    • Minimal enzyme reduction; typically minimal clinical significance when alone; may have additive effects if combined with other thrombophilia factors
    • Compound Heterozygous (CT/AC):
    • One C677T mutation and one A1298C mutation; enzyme activity approximately 40-50% of normal; intermediate clinical significance; risk stratification requires consideration of environmental and nutritional factors
    • Factors Affecting Results:
    • Folate, B12, and B6 vitamin deficiencies potentiate homocysteine elevation
    • Lifestyle factors including smoking, caffeine intake, and alcohol consumption affect homocysteine metabolism
    • Renal function impairment reduces homocysteine clearance
    • Estrogen therapy and certain medications (methotrexate, phenytoin) influence folate metabolism
    • Age-related metabolic changes and comorbid conditions modify phenotypic expression
  • Associated Organs
    • Primary Organ Systems Involved:
    • Cardiovascular system: MTHFR mutations increase homocysteine levels, a known risk factor for atherosclerosis, arterial and venous thrombosis, myocardial infarction, and stroke
    • Reproductive system: Associated with recurrent pregnancy loss, preeclampsia, placental insufficiency, and neural tube defects in offspring
    • Nervous system: Linked to neural tube defects during fetal development and potential neurocognitive effects
    • Hematologic system: Abnormal folate metabolism contributes to impaired DNA synthesis and potential hematologic complications
    • Diseases and Conditions Associated with Abnormal Results:
    • Hyperhomocysteinemia and associated cardiovascular events including coronary artery disease, peripheral arterial disease, and cerebrovascular accidents
    • Thrombophilia and increased risk of deep vein thrombosis, pulmonary embolism, and arterial thrombosis
    • Recurrent pregnancy loss and subfertility; increased risk of preeclampsia and gestational hypertension
    • Neural tube defects including spina bifida and anencephaly in offspring when combined with maternal folate insufficiency
    • Chronic diseases potentially associated with abnormal folate metabolism including migraine headaches, autism spectrum disorders, and certain psychiatric conditions
    • Potential Complications of Abnormal Results:
    • Life-threatening thrombotic events requiring immediate anticoagulation therapy
    • Permanent disability from stroke or myocardial infarction
    • Adverse pregnancy outcomes including fetal loss and maternal complications
    • Birth defects requiring surgical intervention and lifelong management
  • Follow-up Tests
    • Recommended Follow-up Testing Based on MTHFR Mutation Results:
    • Homocysteine level testing: Measure fasting and post-methionine load homocysteine to determine actual enzymatic function impact and cardiovascular risk stratification
    • Comprehensive metabolic panel including folate (serum and red cell), vitamin B12, and pyridoxal-5-phosphate (B6 levels) to identify nutritional deficiencies
    • Comprehensive thrombophilia panel: Evaluate for Factor V Leiden, Prothrombin G20210A, antithrombin III, protein C and S deficiencies to identify compounded thrombotic risk
    • Lipid panel: Assess total cholesterol, LDL, HDL, and triglyceride levels as additional cardiovascular risk factors
    • Coagulation studies (PT/INR, aPTT): Baseline testing before considering anticoagulation therapy if thrombotic risk identified
    • Renal function tests (creatinine, eGFR): Assess kidney function as reduced clearance worsens homocysteine levels
    • Methylmalonic acid and homocysteine metabolite testing: Further evaluate B12 metabolism if deficiency suspected
    • Additional Investigations for Specific Clinical Presentations:
    • Cardiac evaluation: EKG, echocardiogram, or cardiac stress testing for patients with cardiovascular risk factors or symptoms
    • Vascular imaging: Carotid ultrasound or CT angiography if thrombotic events suspected
    • Obstetric ultrasound and fetal screening: High-resolution ultrasound to evaluate for neural tube defects in affected pregnancies
    • Genetic counseling and family member testing: Cascade genetic testing for relatives with similar clinical presentations
    • Monitoring Frequency:
    • Homocysteine levels: Recheck 6-8 weeks after initiating supplementation or dietary modification; annually thereafter if stable on treatment
    • Vitamin B levels: Monitor folate, B12, and B6 initially and annually to ensure adequate supplementation
    • Clinical cardiovascular assessment: Annual evaluation for high-risk patients; more frequent assessment if symptoms develop
    • Pregnancy monitoring: Monthly or trimester-based assessments for pregnant patients with significant MTHFR mutations
  • Fasting Required?
    • Fasting Status for MTHFR Genetic Testing: No fasting required
    • MTHFR genetic mutation testing is a DNA-based genetic test that detects permanent genetic variations and is not affected by nutritional status, time of day, or recent food intake
    • Patients may eat, drink, and take medications normally; no dietary restrictions necessary
    • Can be performed at any time of day without timing considerations
    • Specimen Collection Requirements:
    • Blood sample: Typically 5-10 mL of whole blood collected in EDTA (purple top) tube or DNA collection tube, depending on laboratory protocol
    • Buccal swab: Some laboratories accept saliva specimens or buccal mucosal swabs for non-invasive DNA collection
    • Proper labeling with patient identification and date of collection is essential
    • Patient Preparation Instructions:
    • No special preparation necessary; patient may arrive at any time convenient for blood draw
    • Bring valid photo identification and insurance card to collection facility
    • No medications need to be discontinued; all prescribed medications may be continued as directed
    • Inform phlebotomist of any bleeding disorders or anticoagulation therapy for collection precautions
    • Note Regarding Concurrent Homocysteine Testing:
    • If homocysteine level measurement is ordered simultaneously, fasting may be recommended (8-12 hours) for optimal homocysteine quantification, though MTHFR genetic testing itself requires no fasting
    • Consult with ordering physician or laboratory regarding specific fasting recommendations for combination testing protocols

How our test process works!

customers
customers