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Test Code LAB000 - Enter Specimen type, Source, and Test Name Galactokinase, Blood

Additional Codes

Mayo Test ID
GALK

Reporting Name

Galactokinase, B

Useful For

Diagnosis of galactokinase deficiency

 

Evaluation of children with unexplained bilateral congenital or juvenile onset cataracts

Testing Algorithm

See Galactosemia Testing Algorithm in Special Instructions for additional information.

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Specimen Type

Whole Blood EDTA


Advisory Information


This test is for diagnosis of galactokinase (GALK) deficiency and does not detect either galactose-1-phosphate uridyltransferase (GALT) deficiency, the most common cause of galactosemia, or uridine diphosphate-galactose 4' epimerase (GALE) deficiency. In most cases, GALT deficiency should be ruled out prior to evaluating for GALK deficiency.

-The preferred test to evaluate for possible diagnosis of galactosemia, routine carrier screening, and followup of abnormal newborn screening results is GCT / Galactosemia Reflex, Blood.

-To evaluate GALT deficiency only, order GALT / Galactose-1-Phosphate Uridyltransferase, Blood

-To evaluate for GALE deficiency only, order GALE / UDP-Galactose 4' Epimerase (GALE), Blood

 

This assay is not appropriate for monitoring dietary compliance. If dietary monitoring is needed, order GAL1P / Galactose-1-Phosphate (Gal-1-P), Erythrocytes.



Necessary Information


Biochemical Genetics Patient Information (T602) is recommended, but not required, to be filled out and sent with the specimen to aid in the interpretation of test results.



Specimen Required


Multiple whole blood tests for galactosemia can be performed on 1 specimen. Prioritize order of testing when submitting specimens. See Galactosemia-Related Test List in Special Instructions for a list of tests that can be ordered together.

 

Container/Tube:

Preferred: Lavender top (EDTA)

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

Specimen Volume: 4 mL


Specimen Minimum Volume

2 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
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 81143-0
38007 Interpretation (GALK) 59462-2
38006 Reviewed By 18771-6

Method Name

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

Forms

1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available in Special Instructions:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. Biochemical Genetics Patient Information (T602) is recommended, see Special Instructions.

3. If not ordering electronically, complete, print, and send an Inborn Errors of Metabolism Test Request (T798) with the specimen.