Galactose 1 Phosphate
Order Name
GAL1PHOS
Test Number: 3703875
Revision Date 09/18/2024
Test Number: 3703875
Revision Date 09/18/2024
| Test Name | Methodology | LOINC Code |
|---|---|---|
|
Galactose-1-phosphate (mg/dL)
|
Quantitative Gas Chromatography-Mass Spectrometry | 2312-7 |
| SPECIMEN REQUIREMENTS | ||||
|---|---|---|---|---|
| Specimen | Specimen Volume (min) | Specimen Type | Specimen Container | Transport Environment |
| Preferred | 3 mL (2) | Whole Blood | EDTA (Lavender Top) | Refrigerated |
| Alternate 1 | 5 mL (2) | Whole Blood | Sodium Heparin (Green Top / No-Gel) | Refrigerated |
| Instructions | Specimen: 3mL (2mL) of EDTA Whole Blood or Sodium Heparin Whole Blood Stabiliy: Ambient n/a; Refrigerated 72hrs; Frozen: n/a ?Cause for Rejection: Gross hemolysis |
|||
| GENERAL INFORMATION | |
|---|---|
| Expected TAT | 10 - 15 days |
| Clinical Use | Monitoring dietary therapy of patients with galactosemia due to deficiency of galactose-1-phosphate uridyltransferase or uridine diphosphate galactose-4-epimerase. Galactose-1-phosphate uridyltransferase (GALT) deficiency is the most common cause of galactosemia and requires lifelong restriction of dietary galactose. ?Galactose-1-phosphate is elevated in patients with galactosemia due to GALT deficiency or uridine diphosphate galactose-4-epimerase deficiency, therefore is a suitable analyte for monitoring dietary compliance. |
| CPT Code(s) | 84378 |
| Service Provided By |  |
| Lab Section | Reference Lab |