Test Catalog

Test ID: HCYSU    
Homocysteine, Total, Urine

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

NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.


Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

Homocysteine, Total, U

Aliases Lists additional common names for a test, as an aid in searching

Homocystine(single Amino Acid only)(order HCYSU/single Homocystine req)