Galactose-1-Phosphate Uridyltransferase Build info

Synonyms

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

Short Name

GALACTOSE-1-PHOS URIDYLTRANS

Procedure Master Number

LAB11232

Procedure ID

114838

Clinical Info

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

Specimen Type

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

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

Results