Homocysteine, Total, Serum
Use
An aid for screening patients suspected of having an inherited disorder of methionine metabolism such as cystathionine beta-synthase deficiency, methylenetetrahydrofolate reductase deficiency, methionine synthase deficiency, and cobalamin metabolism defects. It is used for screening and monitoring patients with suspected or confirmed disorders of methionine metabolism. The test is also used for evaluating vitamin B12 or folate deficiency.
Special Instructions
Patient's age and sex are required. Collection instructions include centrifuging and aliquoting serum into a plastic vial within 4 hours of collection.
Limitations
Homocysteine levels may be influenced by genetic factors, vitamin status, and environmental factors. There is controversy over its use as a cardiovascular risk predictor. The test should be complemented with other biochemical screenings like plasma amino acids, quantitative acylcarnitines, and urine organic acids for a comprehensive evaluation of methionine metabolism disorders.
New York Approved
Methodology
Mass Spectrometry (LC-MS/MS)
Biomarkers
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Serum
Volume
1 mL
Minimum Volume
0.4 mL
Container
Plastic vial
Collection Instructions
Within 4 hours of collection, centrifuge and aliquot serum into plastic vial.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 28 days |
| Refrigerated | 28 days |
| Frozen | 309 days |