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).
1 analyte
3–5 working days
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.
From enquiry to results in a few simple steps — no clinic visit required.
This test is available to healthcare professionals, wellness brands, clinics, and research institutions worldwide. We currently serve partners in:
Whether you need testing services for your patients, white-label kits for your brand, or method transfer to your own laboratory — get in touch to discuss how we can work together.
Homocysteine is a sulfur-containing amino acid produced 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 converted to cysteine (requiring vitamin B6). Elevated homocysteine levels, known as hyperhomocysteinaemia, are an established independent risk factor for cardiovascular disease, venous thromboembolism, and stroke.
Elevated homocysteine indicates impaired methylation, most commonly caused by deficiencies in vitamin B12 or folate. It is also clinically relevant for individuals with MTHFR gene variants, which affect how the body processes folate and can lead to persistently high homocysteine. Testing identifies a modifiable cardiovascular risk factor that can often be corrected through targeted B-vitamin supplementation.
The test can be performed from a finger-prick dried blood spot (DBS) or from serum or plasma collected by venepuncture. DBS collection enables convenient at-home sampling without a clinic visit. The sample is stable at room temperature and can be posted to our laboratory by regular mail from anywhere in the world.
Results are typically delivered within 3 to 5 working days from the time your sample arrives at our laboratory. The analysis is performed by LC-MS/MS (liquid chromatography-tandem mass spectrometry), which measures total homocysteine including free, protein-bound, and oxidised forms for accurate clinical assessment.
The most common causes are vitamin B12 deficiency, folate deficiency, and MTHFR genetic polymorphisms (particularly the C677T variant). Other causes include vitamin B6 deficiency, chronic kidney disease, hypothyroidism, and certain medications including methotrexate, phenytoin, and carbamazepine. Elevated homocysteine is typically reversible with targeted supplementation of the appropriate B vitamins.
Masdiag's homocysteine test is available worldwide through our partner network. We currently serve healthcare professionals, wellness brands, and clinics in Europe, the United Kingdom, Asia, Australia, New Zealand, and the United States. Contact us to discuss testing services, white-label kits, or method transfer to your laboratory.
Whether you need testing services, method transfer, or white-label kit development — we'd love to hear from you.