GALT
Galac-1-Phosphate Uridyl Transferase
EPIC Test Procedure Code: LAB3741
Synonyms:
Galactosemia Enzyme
Performing Lab:
Referral Laboratory
Container Type:
Lavender top (EDTA) tube or green top (heparin) tube or yellow top (ACD)
Specimen Type:
Whole blood
Preferred Volume:
5 mL
Minimum Volume:
2 mL
Store and Transport:
Refrigerated
Stability:
Refrigerated - 28 days
Room temperature - 14 days
Frozen - unacceptable
Unacceptable Condition:
Gross hemolysis
CPT Codes:
82775 - Galactose-1-Phosp Uridyltransfera (EAP 30021541)
Method:
Enzyme Reaction followed by Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)
Clinical Significance:
Diagnosis of galactose-1-phosphate uridyltransferase deficiency, the most common cause of galactosemia
Confirmation of abnormal state newborn screening results
Confirmation of abnormal state newborn screening results
Notes:
This assay is not appropriate for monitoring dietary compliance.