Galactose-1-Phosphate Uridyltransferase Pheno

Label Mnemonic:	GALT
Epic code:	LAB3187
Downtime form:	A-1a Doctor/Provider Orders - Pathology Core and Specialty Care Nursery

Commercial Mailout Laboratory
6240-8 RCP
356-8593

Specimen(s):

Whole Blood

Specimen Instructions:

Patient's age is required on request form for processing.

Collection Medium:

Pink top tube 6 mL (K2-EDTA)

Minimum:

3 mL whole blood

Turn Around Time:

8 days upon receipt at reference laboratory

Reference Range:

Descriptive report

Interpretive Data:

An interpretive report will be provided.

Comments:

Please print, complete and submit the Informed Consent for Genetic Testing from Mayo Medical Laboratories with the specimen.

Useful for:
1) Determining the biochemical phenotype for galactosemia when enzymatic and molecular results are incongruent.

2) A quantitative galactose-1-phosphate uridyltransferase level (GALT / Galactose-1-Phosphate Uridyltransferase [GALT], Blood) is required for accurate interpretation.

Cautions:
A more comprehensive interpretation can be provided when parental specimens are also submitted for testing.

Since transfusion results in replacement of significant number of red cells, the assay should be deferred for 90 days post-transfusion.

Methodology:

Isoelectric Focusing

CPT Code:

82775