Galactose-1-Phosphate in Red Blood Cells
Use
This test is used to monitor treatment, response, and compliance with dietary restriction for patients with an established diagnosis of galactosemia. It is not intended for the diagnosis of galactosemia. For diagnostic purposes, refer to the Galactosemia (GALT) Enzyme Activity and 9 Mutations test.
Special Instructions
Use the Galactosemia Testing Patient History Form when submitting specimens. Ensure whole blood is placed on wet ice immediately after collection and transported while refrigerated. Alternative acceptable specimen is frozen, washed red blood cells, which must be prepared following specific washing and centrifugation steps.
Limitations
The test has not been cleared or approved by the US Food and Drug Administration and was developed by ARUP Laboratories. It is performed in a CLIA certified laboratory and intended strictly for clinical diagnostic purposes.
New York Approved
Methodology
Mass Spectrometry
Biomarkers
LOINC Codes
- 2312-7
- 33360-9
- 38485-9
Result Turnaround Time
2-9 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
5 mL
Minimum Volume
2 mL
Container
Lavender (EDTA) or green (sodium or lithium heparin) tube
Collection Instructions
Place tube on wet ice immediately after collection.
Storage Instructions
Transport refrigerated.
Causes for Rejection
Frozen or room temperature specimens.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | Unacceptable |
| Refrigerated | 72 hours |
| Frozen | Unacceptable |