TEST CATALOG ORDERING & RESULTS SPECIMEN HANDLING CUSTOMER SERVICE EDUCATION & INSIGHTS
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Test ID: HCYSS    
Homocysteine, Total, Serum

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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

 

Screening and monitoring patients suspected of or confirmed with an inherited disorder of methionine metabolism

 

Evaluating individuals with suspected deficiency of vitamin B12 or folate

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

Cystathionine beta-synthase deficiency
Methylenetetrahydrofolate reductase deficiency (MTHFR)
MTHFR deficiency
Methionine synthase deficiency
Cobalamin (Cbl) metabolism
Methyl-Cobalamin deficiency
Adenosyl-cobalamin deficiency
Cbl C2 deficiency
Cbl D2 deficiency
Cbl F3 deficiency
Cbl D-Var1 deficiency
Cbl E deficiency
Cbl G deficiency
Transcobalamin II deficiency:
Adenosylhomocysteinase (AHCY) deficiency
Glycine N-methyltransferase (GNMT) deficiency
Methionine adenosyltransferase (MAT) I/III deficiency
Cobalamin C2 deficiency
Cobalamin D2 deficiency
Cobalamin F3 deficiency
Cobalamin D-Variant 1 deficiency
Cobalamin E deficiency
Cobalamin G deficiency