Galactose-1-Phosphate Uridyltransferase (GALT Enzyme), RBC
Also known as: GALT ENZ
Use
This test is primarily used for the initial diagnosis or to rule out galactosemia. It measures the activity of the Galactose-1-Phosphate Uridyltransferase enzyme in red blood cells to assess for conditions like classic galactosemia, Duarte galactosemia, and carrier states. The results provide critical information necessary for genetic and metabolic evaluations, especially in the context of assessing enzyme deficiency levels appropriate for different genotypes.
Special Instructions
Not provided.
Limitations
While enzyme activity measurements are useful in diagnosing classic galactosemia and other variants, they may not differentiate all carrier forms or the variants effectively. For comprehensive assessment or suspicion of galactosemia, ordering the Galactosemia (GALT) Enzyme Activity and 9 Mutations test is encouraged. Additionally, for monitoring therapy in galactosemia patients, ordering Galactose-1-Phosphate in Red Blood Cells is recommended.
New York Approved
Methodology
Mass Spectrometry
Biomarkers
Galactose-1-Phosphate Uridyltransferase
Other
LOINC Codes
- 24082-0 - Gal1PUT RBC-cCnt
Result Turnaround Time
2-5 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
7 mL
Minimum Volume
3 mL
Container
Green (Sodium or Lithium Heparin), Lavender (K2EDTA), or Pink (K2EDTA)
Collection Instructions
Collect on ice. DO NOT FREEZE.
Storage Instructions
Refrigerated.
Causes for Rejection
Hemolyzed specimens.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | Unacceptable |
| Refrigerated | 5 days |
| Frozen | Unacceptable |
Other tests from different labs that may be relevant