Test Catalog

Test ID: HCYSP    
Homocysteine, Total, Plasma

Useful For Suggests clinical disorders or settings where the test may be helpful

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 (MAT) I/III deficiency

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, P

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

Methionine Load