Inpatient and Outpatient Orderable

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 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

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