Test ID: HCYSU
Homocysteine, Total, Urine
Secondary ID
A test code used for billing and in test definitions created prior to November 2011
Useful For
Suggests clinical disorders or settings where the test may be helpful
As an aid for screening patients suspected of having an inherited disorder of methionine metabolism including:
-Cystathionine beta-synthase deficiency (Homocystinuria)
-Methylenetetrahydrofolate reductase deficiency (MTHFR) and its thermolabile variants:
- Methionine synthase deficiency
- Cobalamin (Cbl) Metabolism:
- Combined Methyl-Cbl and Adenosyl-Cbl deficiencies: Cbl C2, Cbl D2 and Cbl F3 deficiencies
- Methyl-Cbl specific deficiencies: Cbl D-Var1, Cbl E and Cbl G deficiencies
- Transcobalamin II deficiency:
- Adenosylhomocysteinase: AHCY deficiency
- Glycine N-methyltransferase: GNMT deficiency
- Methionine Adenosyltransferase I/III Deficiency: MAT I/III deficiency
As a (weak) indicator of cardiovascular risk
Method Name
A short description of the method used to perform the test
Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS) Stable Isotope Dilution Analysis


