Home
HelpTest Code GALK Galactokinase, Blood
Reporting Name
Galactokinase, BUseful For
Diagnosis of galactokinase deficiency
Evaluation of children with unexplained bilateral congenital or juvenile onset cataracts
Testing Algorithm
For more information see Galactosemia Testing Algorithm.
Performing Laboratory
Mayo Clinic Laboratories in Rochester
Specimen Type
Whole Blood EDTAOrdering Guidance
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), uridine diphosphate-galactose 4' epimerase (GALE) deficiency, or galactose mutarotase (GALM) 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 follow-up 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
-To evaluate for GALM deficiency, order GALP / Galactose, Plasma and molecular analysis of the GALM gene.
This assay is not appropriate for monitoring dietary compliance. If dietary monitoring is needed, order GAL1P / Galactose-1-Phosphate, 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. For a list of tests that can be ordered together see Galactosemia-Related Test List.
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 |
Special Instructions
Reference Values
≥0.7 nmol/h/mg of hemoglobin
Day(s) Performed
Monday
Test Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US 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 |
Interpretation
An interpretive report will be provided.
Deficient galactokinase enzyme activity in erythrocytes is diagnostic for galactokinase deficiency.
Clinical Reference
1. Pasquali M, Yu C, Coffee B. Laboratory diagnosis of galactosemia: a technical standard and guideline of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2018;20(1):3-11. doi:10.1038/gim.2017.172
2. Hennermann JB, Schadewaldt P, Vetter B, Shin YS, Monch E, Klein J. Features and outcome of galactokinase deficiency in children diagnosed by newborn screening. J Inherit Metab Dis. 2011;34(2):399-407. doi:10.1007/s10545-010-9270-8
3. Ramani PK, Arya K. Galactokinase deficiency. In: StatPearls [Internet]. StatPearls Publishing; 2021. Updated July 31, 2023. Accessed September 12, 2024. Available at www.ncbi.nlm.nih.gov/books/NBK560683/
4. Walter JH, Fridovich-Keil JL. Galactosemia. In: Valle D, Antonarakis S, Ballabio A, Beaudet AL, Mitchell GA, eds. The Online Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill; 2019 Accessed September 12, 2024. Available at https://ommbid.mhmedical.com/content.aspx?bookid=2709§ionid=%20225081023
Report Available
5 to 11 daysMethod 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:
-Informed Consent for Genetic Testing (T576)
-Informed Consent for Genetic Testing-Spanish (T826)
2. Biochemical Genetics Patient Information (T602) is recommended.
3. If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.