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Test ID: GALK    
Galactokinase, Blood

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

Diagnosis of galactokinase deficiency, the second most common cause of galactosemia

Highlights

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 situations when tests are added to the initial order. This includes reflex and additional tests.

See Galactosemia Testing Algorithm in Special Instructions.

Special Instructions Library of PDFs including pertinent information and forms related to the test

Method Name A short description of the method used to perform the test

Enzyme Reaction Followed by 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

Galactokinase, B

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

Galactokinase (RBC)
Galactokinase Deficiency
Galactosemia