Printable Test Catalog - OU Medicine

SPECIMEN VOLUME: 5 mL each tube
MINIMUM VOLUME: 3 mL (heparinized)
1 mL (EDTA)
TEST INCLUDES: Galactose-1-Phosphate Uridyltransferase enzyme
activity, Galactose-1-phosphate RBC and GALT
common mutation panel
TEST AVAILABILITY: Monday-Thursday
TURNAROUND TIME: 7-14 days
OTHER NAMES: Comprehensive Galactosemia Panel: Classic
Galactosemia; GALT deficiency, Galactose-1-
Phosphate Uridyltransferase Deficiency
METHODOLOGY: GALT enzyme:Radioenzymatic analysis; Gal-1-P:
Spectrophotometry; Mutation analysis: Polymerase
Chain Reaction (PCR) and allele-specific extension
CLINICAL USE: Confirmation of galactosemia; Identify
galactosemia carriers;
CPT: 82775 x 2; 83891; 83894 x 2; 83900; 83901 x 2; 83914;
85018
[GSD0] GLYCOGEN STORAGE TYPE 0
SPECIMEN REQUIRED: Whole blood at room temperature
TUBE OR CONTAINER: Lavender (EDTA) or Yellow (ACD)
SPECIMEN VOLUME: 5 mL
MINIMUM VOLUME: 2 mL
TEST AVAILABILITY: Daily
REFERENCE RANGE: No mutation detected
OTHER NAMES: Glycogen synthetase deficiency
METHODOLOGY: Polymerase Chain Reaction (PCR)
CPT: 83890; 83891; 83894; 83898 x 16; 83904 x 16; 83912
[GSD2] GLYCOGEN STORAGE TYPE 2
SPECIMEN REQUIRED: Whole blood room temperature
TUBE OR CONTAINER: Lavender (EDTA) or Yellow (ACD)
SPECIMEN VOLUME: 5 mL
MINIMUM VOLUME: 2 mL
TEST AVAILABILITY: Daily
TURNAROUND TIME: 2-4 weeks
OTHER NAMES: GAA Exon Sequencing
METHODOLOGY: Polymerase Chain Reaction (PCR)
CPT: 83890; 83891; 83894; 83898 x 16; 83904 x 18; 83912
[GSD3] GLYCOGEN STORAGE TYPE 3
SPECIMEN REQUIRED: Whole blood room temperature
TUBE OR CONTAINER: Lavender (EDTA) or Yellow (ACD)
SPECIMEN VOLUME: 5 mL
MINIMUM VOLUME: 2 mL
TEST AVAILABILITY: Daily
TURNAROUND TIME: 2-3 weeks
OTHER NAMES: AGL Gene Sequencing