Unit Code 80341:
Galactose-1-Phosphate Uridyltransferase Biochemical Phenotyping, Erythrocytes
Useful For
Determining the exact biochemical phenotype when quantitative
GALT data suggests a GG or DG phenotype
A quantitative GALT level (#8333 "Galactose-1-Phosphate
Uridyltransferase [GALT], Blood") is used in addition to the
isoelectric focusing for accurate interpretation
Determining biochemical phenotypes of siblings, when parental
specimens are co-run for both quantitative and isoelectric focusing
banding data
Special Instructions and Forms
Method Name
Isoelectric Focusing
This assay is useful for determining the likely genotype
when quantitative galactose-1-phosphate uridyltrans-
ferase (GALT) data suggests a GG or DG genotype (a patient
with a GG genotype must be on a galactose-free diet). The
biochemical phenotype of a child should be identified when
the activity of GALT is 10.0 U/g of hemoglobin or less.
Clinical symptoms are not noted with higher GALT activity.
A quantitative GALT level (#8333 "Galactose-1-Phosphate
Uridyltransferase [GALT], Blood") is used in addition to
the isoelectric focusing for accurate interpretation. If
GALT has not been done previously, it must be ordered at an
additional charge.
General Information:
See "Galactosemia Testing Algorithm" in Special Instructions
for additional information.
Reporting Name
Gal-1-Phos Urdyltrns Phenotype,RBC
Ordering Mnemonic
GALTP
GPUTP
Aliases
Biochemical Phenotype
Erythrocyte Galactose-1-Phosphate Uridyltransferase (GALT)
Phenotyping
Erythrocyte Galactose-1-Phosphate Uridyltransferase (GALT) Phenotyping
Galactose-1-Phosphate Uridyltransferase Isoenzymes/Isoelectric Focusing
Galactosemia
GALT Phenotype
GPUT (Galactose-1-Phosphate Uridyltransferase) Phenotyping
RBC (Red Blood Cell), Galactose-1-Phosphate Uridyltransferase Phenotyping
External link
PDF document
Excel document
Word document