Casandra
Casandra Test Code QD13263Version 1 (DRAFT)
Performing Lab
Galactose‑1‑Phosphate Uridyltransferase, RBC
Also known as: G1PU, Galt, Gal-1-P, G-1-P-U Trans, G1PUT
Clinical Use
Order TestUse
Determining the biochemical phenotype for galactosemia when enzymatic and molecular results are incongruent—helpful when enzymatic and molecular findings do not align.
Special Instructions
Patient’s age is required. New York clients require informed consent (document on form or electronic order). Submit a biochemical genetics request form with the specimen.
Limitations
Not provided.
Test Details
Methodology
Other
Biomarkers
GALT enzymatic activity
OtherGALT activity • Concentration / Level • Quantitative (Continuous) (e.g., copies/mL, % expression)
Result Turnaround Time
6-7 days
Related Documents
For more information, please review the documents below
Specimen Requirements
Specimen
Whole Blood
Volume
5 mL
Minimum Volume
2 mL
Container
EDTA (lavender‑top) tube
Collection Instructions
5 mL whole blood collected in an EDTA (lavender‑top) tube
Storage Instructions
Transport refrigerated (cold packs)
Causes for Rejection
Gross hemolysis
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 14 days |
| Refrigerated | 28 days |