Galactose-1-Phosphate, Erythrocytes
Use
This test is useful for monitoring dietary compliance in patients with galactosemia due to galactose-1-phosphate uridyltransferase (GALT) deficiency or uridine diphosphate galactose-4-epimerase (GALE) deficiency. Monitoring is crucial as galactose-1-phosphate accumulates in erythrocytes in these patients, which can lead to serious health complications. The test aids in ensuring that patients maintain low levels of galactose-1-phosphate, thereby preventing acute symptoms and improving prognosis.
Special Instructions
Specimens must be received in the testing laboratory within 72 hours of collection for accurate results. Patient preparation includes collecting specimens prior to feeding in infants to avoid postprandial elevations. The specimen container's preferred type is a lavender top (EDTA), with a green top (sodium heparin) being acceptable. The Biochemical Genetics Patient Information form is recommended to be filled out to aid in interpretation, but it is not mandatory.
Limitations
This test is not suitable for diagnosing galactosemia or epimerase deficiency. The preferred tests for these diagnoses are GCT / Galactosemia Reflex, Blood and GALE / Uridine Diphosphate-Galactose 4' Epimerase, Blood respectively. Specimens exhibiting gross hemolysis will be rejected. Patients should wait 3 to 4 months after receiving a blood transfusion before collection, as this could affect the results. Specimens collected post-meal may exhibit elevated levels, affecting test results.
New York Approved
Methodology
Mass Spectrometry (LC-MS/MS)
Biomarkers
LOINC Codes
- 2312-7
- 2312-7
Result Turnaround Time
4-10 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
2 mL
Container
Lavender top (EDTA) or acceptable green top (sodium heparin)
Collection Instructions
Multiple whole blood tests for galactosemia can be performed on 1 specimen. Prioritize order of testing when submitting specimens.
Patient Preparation
Specimens collected following a meal can exhibit postprandial elevations. For infants, collect a specimen immediately prior to feeding to avoid this.
Storage Instructions
Refrigerated
Causes for Rejection
Gross hemolysis
Stability Requirements
| Temperature | Period |
|---|---|
| Refrigerated | 72 hours |