Diagnosis of galactokinase deficiency, the second most common cause of galactosemia
Galactokinase (GALK) deficiency is a milder form of galactosemia that results in cataracts, which are preventable with a lactose-restricted diet.
Deficient GALK enzyme activity in erythrocytes is diagnostic for galactokinase deficiency.
In GALK deficiency, erythrocyte galactose-1-phosphate levels are normal, whereas plasma galactose levels are elevated.
The results of testing performed in erythrocytes are invalid following a transfusion, including analysis of enzymes, biochemical phenotyping, or galactose-1-phosphate.
Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.
See Galactosemia Testing Algorithm in Special Instructions.
Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test
Enzyme Reaction Followed by Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)
NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.
Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name