Inpatient and Outpatient Orderable

Galactose-1-Phosphate Uridyltransferase

Synonyms

GALACT-1-PHOS URIDYLTRANS
GALACTOSE-1-PHOS URIDYLTRANS
LAB11232

Cerner Name

Clinical Info

Diagnosis of galactose-1-phosphate uridyltransferase deficiency, the most common cause of galactosemia
Confirmation of abnormal state newborn screening results

Specimen Sources

Blood, Arterial Blood, Capillary Blood, Central Line Blood, Venous

Specimen Types

Blood

Container

Lavender Top Tube

Collection Instructions

Container/Tube: Lavender top (EDTA)
Acceptable: Green top (sodium heparin) or yellow top (ACD)
Volume: 5 mL whole blood (2 mL min)
Transport Temperature: Refrigerated
Stability: 14 Days Room Temperature
28 Days Frozen

Specimen Volume

Transport Instructions

Refrigerated

Specimen Stability

14 Days Room Temperature
28 Days Frozen

Methodology

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

Days Performed

Monday, Wednesday, Friday; 7 a.m. set up (specimen must be
received the day prior)

Performing Laboratory

Mayo Medical Laboratories

CPT

82775
LOINC Code: 24082-0

PDM

5902542

Only Orderable at Locations:

Orderable Everywhere

Results

Component Name	Base Name	Common Name	External Name
GALACTOSE-1-PHOS URIDYLTRANS	GALACTO	GALACT 1 PHOS URIDYLTRANS	Galactose-1-Phos Uridyltrans

Result Interpretation

≥24.5 nmol/h/mg of hemoglobin

Forms

LAB11232

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