Galactose, Quantitative, Plasma
Use
Screening for galactosemia. Galactose-1-phosphate uridyltransferase (GALT) deficiency is the most common cause of galactosemia and requires lifelong restriction of dietary galactose. Plasma galactose can be elevated in patients with galactosemia caused by GALT deficiency, galactokinase deficiency, or galactose mutarotase deficiency. Classic galactosemia can be diagnosed by analysis of GALT enzyme.
Special Instructions
This test is not recommended for follow-up of positive newborn screening results or for diagnosis of galactosemia. The preferred tests are GCT / Galactosemia Reflex, Blood and GAL1P / Galactose-1-Phosphate, Erythrocytes. For monitoring dietary therapy, GAL1P / Galactose-1-Phosphate, Erythrocytes is preferred for both galactose-1-phosphate uridyltransferase and uridine diphosphate galactose-4-epimerase deficiencies.
Limitations
Additional testing is required to investigate the cause of abnormal results. If results are outside the normal range and galactosemia is suspected, specific enzyme or molecular analysis is required. Despite adequate treatment from an early age, individuals with galactosemia remain at increased risk for developmental delays, speech problems, and abnormalities of motor function.
New York Approved
Methodology
Automated Analyzer (Clinical Chemistry Analyzer)
Biomarkers
LOINC Codes
- 2308-5
- 2308-5
Result Turnaround Time
4-10 days
Related Documents
For more information, please review the documents below
Specimen
Plasma
Volume
0.5 mL
Minimum Volume
0.2 mL
Container
Green top (sodium heparin)
Collection Instructions
Centrifuge and aliquot plasma into a plastic vial
Causes for Rejection
Gross hemolysis OK, Gross lipemia OK
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 20 days |
| Refrigerated | 20 days |
| Frozen | 365 days |