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Test Code GALK Galactokinase, Blood

Reporting Name

Galactokinase, B

Useful For

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

Testing Algorithm

See Galactosemia Testing Algorithm in Special Instructions.

Performing Laboratory

Mayo Medical Laboratories in Rochester

Specimen Type

Whole Blood EDTA

Specimen Required

Container/Tube:

Preferred: Lavender top (EDTA)

Acceptable: Green top (sodium heparin), green top (lithium heparin), or yellow top (ACD)

Specimen Volume: 4 mL

Forms: New York Clients-Informed consent is required. Please document on the request form or electronic order that a copy is on file. An Informed Consent for Genetic Testing (Supply T576) is available in Special Instructions.

Specimen Minimum Volume

2 mL

Specimen Stability Information

Specimen Type Temperature Time
Whole Blood EDTA Refrigerated (preferred) 10 days
  Ambient  72 hours

Reference Values

≥0.7 nmol/h/mg of hemoglobin

Day(s) and Time(s) Performed

Mondays; 9 a.m.

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

CPT Code Information

82759

LOINC Code Information

Test ID Test Order Name Order LOINC Value
GALK Galactokinase, B 81143-0

 

Result ID Test Result Name Result LOINC Value
38005 Galactokinase, B In Process
38007 Interpretation (GALK) In Process
38006 Reviewed By No LOINC Needed

Method Name

Enzyme Reaction Followed by Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)