|Values are valid only on day of printing.|
Determining the biochemical phenotype for galactosemia when enzymatic and molecular results are incongruent
A quantitative galactose-1-phosphate uridyltransferase level (GALT / Galactose-1-Phosphate Uridyltransferase [GALT], Blood) is required for accurate interpretation.
Galactose-1-phosphate uridyltransferase (GALT) deficiency is the most common cause of galactosemia and requires lifelong restriction of dietary galactose.
When enzymatic and molecular results are incongruent for galactosemia, biochemical phenotype in conjunction with GALT enzyme analysis distinguishes between classic galactosemia and other phenotypes.
|Test ID||Reporting Name||Available Separately||Always Performed|
|GALT||Gal-1-P Uridyltransferase, RBC||Yes||Yes|
A quantitative galactose-1-phosphate uridyltransferase (GALT) level (GALT / Galactose-1-Phosphate Uridyltransferase [GALT], Blood) is used in addition to the isoelectric focusing for accurate interpretation. If recent GALT test results are not provided, GALT will be automatically performed at an additional charge. However, if previous GALT results are provided, GALT testing will be cancelled and not charged.
GCT / Galactosemia Reflex, Blood is the preferred test to evaluate for possible diagnosis of galactosemia, routine carrier screening, and follow-up of abnormal newborn screening results.
For monitoring of dietary compliance, see GAL1P / Galactose-1-Phosphate (Gal-1-P), Erythrocytes.
See Galactosemia Testing Algorithm in Special Instructions.
GALTP: Isoelectric Focusing
GALT: Enzyme Reaction Followed by Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)