Galactose-1-Phosphate, Uridyl Trans.




Test Mnemonic

G1PHOS

CPT Codes

  • 82775 - QTY (1)

LOINC ®

10970-2

Aliases

  • Galactose-1-Phosphate Uridyltransferase (GALT Enzyme), RBC
  • Phosphogalactose Transferase

Performing Laboratory

ARUP

FDA Category

Laboratory Developed Test


Specimen Requirements

Volume Type Container Collect Temperature Transport Temperature Special Instructions
Volume7 mLTypeWhole bloodContainerSodium heparin (Green)Collect TemperaturePlace specimen on ice after draw.Transport TemperatureRefrigeratedSpecial InstructionsDo NOT freeze.

Alternate Specimen Requirements

Volume Type Container Collect Temperature Transport Temperature Special Instructions
Volume7 mLTypeWhole bloodContainerLithium heparin (Green)Collect TemperaturePlace specimen on ice after draw.Transport TemperatureRefrigeratedSpecial InstructionsDo NOT freeze.
Volume7 mLTypeWhole bloodContainerEDTA (Lavender)Collect TemperaturePlace specimen on ice after draw.Transport TemperatureRefrigeratedSpecial InstructionsDo NOT freeze.

Minimum Specimen Requirements

Volume Type Container Collect Temperature Transport Temperature Special Instructions
Volume3 mLType Container Collect Temperature Transport Temperature Special Instructions 

Stability

Environmental Condition Description
Environmental ConditionAmbientDescriptionUnacceptable
Environmental ConditionRefrigeratedDescription5 days
Environmental ConditionFrozenDescriptionUnacceptable

Days Performed

Mon, Wed, Fri

Turnaround Time

3 - 6 days

Methodology

Name Description
NameEnzymaticDescription 
NameLiquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)Description 

Reference Range

Galactose-1-Phosphate, Uridyl Trans.
Sex Age From Age To Type Range Range Unit
Galactose-1-Phosphate, Uridyl Trans. Sex   Age From   Age ToNormalType> or = 19.4RangeU/g Hb

Special Info

Do NOT freeze. Hemolyzed specimens are unacceptable. This test is New York DOH approved.

Clinical Info

Enzyme activity may not differentiate variant form of galactosemia or carriers. To monitor therapy in patients with galactosemia, order Galactose-1-Phosphate in red blood cells. One U/g Hb is equivalent to one umol/hour/gram of hb (umol/hr/g hb). Genotype/Galactose-1-Phosphate Uridyltransferase activity (µmol h-1 gHb-1): Classic galactosemia (G/G), < or = 0.7; Duarte galactosemia (D/G), 3.1-7.8; Classic galactosemia carrier (G/N), 6.5-16.2; Duarte homozygous (D/D), 6.4-16.5; Duarte carrier (D/N), 12.0-24.0; Normal (N/N), > or = 19.4