Test Catalog

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Test ID: HCYSS    
Homocysteine, Total, Serum

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

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 (MS) 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)

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

Yes

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

Homocysteine, Total, S

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

Methionine Load
HCYSS
Homocystinemia
Homocystinuria