Galactose-1-Phosphate, RBC

Label Mnemonic:	GAL1PHOS
Epic code:	LAB3192
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:

Erythrocytes must be washed within 4 hours of draw.

Collection Medium:

Lavender top tube 3 mL (EDTA)

Alternate Collection Media:

Green top tube 4 mL (Na Heparin)

Minimum:

3 mL EDTA whole blood (fill complete tube). Do NOT pour off into another tube. Do Not centrifuge. Specimen must be analyzed within 72 hours of collection.

Additional Information:
For infants, collect specimen immediately prior to feeding to avoid postprandial elevations.

Delivery Instructions:

Deliver to laboratory immediately after collection.

Testing Schedule:

Collect Monday-Thursday only; no weekend, no holiday, no day before holiday collection. For Friday collection, call Mailouts at 356-8593 (M-F, 8-5).

Turn Around Time:

2 weeks upon receipt at reference laboratory

Reference Range:

Normal range: < or =0.9 mg/dL

Therapeutic range: < or =4.9 mg/dL

Interpretive Data:

The concentration of galactose-1-phosphate (Gal-1-P) is provided along with reference ranges for patients with galactosemia and normal controls. The recommended Gal-1-P goal for patients with galactosemia is less than or equal to 4.9 mg/dL.

Comments:

Useful For:
Monitoring dietary therapy of patients with galactosemia due to deficiency of galactose-1-phosphate uridyltransferase or uridine diphosphate galactose-4-epimerase.

The results of specimens collected following a meal can exhibit postprandial elevations. For infants, collect a specimen immediately prior to feeding to avoid this.

Methodology:

Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)

CPT Code:

84378