Quantitative determination of homocysteine from dried blood spot, serum, or plasma. Performed by high-performance liquid chromatography coupled with tandem mass spectrometry (LC-MS/MS).
This method enables accurate quantification of total homocysteine, a key biomarker for cardiovascular risk assessment, B-vitamin status evaluation, and methylation pathway function.
Clinical indications include:
| Analyte / Group | Components | Clinical Significance |
|---|---|---|
| Homocysteine | Total homocysteine (tHcy) | Sulfur-containing amino acid; elevated levels (hyperhomocysteinaemia) are an independent risk factor for cardiovascular disease |
Total homocysteine includes free, protein-bound, and oxidised forms, all reduced during sample preparation to provide a single total concentration.
Homocysteine is a sulfur-containing amino acid formed during the metabolism of methionine. It sits at a critical metabolic junction where it can either be remethylated back to methionine (requiring folate and vitamin B12) or transsulfurated to cysteine (requiring vitamin B6). Disruption of either pathway leads to elevated homocysteine levels.
Generally considered the upper limit of normal
Key cofactors in homocysteine remethylation
Common genetic variant affecting homocysteine metabolism
Elevated homocysteine (hyperhomocysteinaemia) is an established independent risk factor for atherosclerotic cardiovascular disease, venous thromboembolism, and stroke. The relationship between homocysteine and vascular damage involves endothelial dysfunction, oxidative stress, and prothrombotic effects.
Homocysteine is also a sensitive functional marker of B-vitamin status. Elevated levels commonly indicate deficiency of folate, vitamin B12, or vitamin B6, even when serum levels of these vitamins appear normal. This makes homocysteine testing particularly valuable in populations at risk of B-vitamin deficiency, including the elderly, vegetarians, and patients with malabsorption.
The MTHFR C677T polymorphism is one of the most common genetic variants affecting homocysteine metabolism. Individuals homozygous for this variant (TT genotype) typically have 20–40% higher homocysteine levels and may require higher folate intake to maintain normal methylation function.
The test is performed using isotope-dilution high-performance liquid chromatography coupled with tandem mass spectrometry (LC-MS/MS). Total homocysteine is measured following reduction of all disulfide bonds and protein precipitation, ensuring complete recovery of free, bound, and oxidised forms.
Available from DBS, serum, or plasma. DBS collection is particularly advantageous for remote sampling and population screening, while plasma/serum collection follows standard venepuncture protocols.
Homocysteine is an important biomarker for cardiovascular disease risk assessment. Masdiag measures homocysteine using validated analytical methods to provide clinically actionable results.
Homocysteine testing is valuable for Cardiovascular disease risk assessment, Detection of vitamin B12 and folate deficiency. Understanding homocysteine levels helps inform personalized health optimization and clinical decision-making.
Homocysteine is available from DBS, Serum, Plasma. DBS (dried blood spot) collection offers convenient fingerprick sampling from home, while serum/plasma collection follows standard venepuncture protocols. Both methods are supported by Masdiag.
This test is recommended for individuals interested in cardiovascular disease risk assessment. Masdiag homocysteine testing helps guide personalized supplementation and health optimization strategies based on objective biomarker data.
Homocysteine results provide insight into your metabolic status and cardiovascular disease risk assessment. Combined with clinical context, Masdiag results inform evidence-based interventions for personalized health optimization.
Whether you need testing services, method transfer, or white-label kit development — we'd love to hear from you.