Web: | mayocliniclabs.com |
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Email: | mcl@mayo.edu |
Telephone: | 800-533-1710 |
International: | +1 855-379-3115 |
Values are valid only on day of printing. |
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 B12 or folate
Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)