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 |
| Internal Comments | 9/18/24 change fromLCA 806520 to 833591 - JK previous instructions changed out and removed 10/9/15 READ THIS BEFORE COLLECTION! - Sample must be processed within 4hrs of collection. If your location cannot process the sample please send patient to RML main lab for collection. Samples collected off site must be processed within 4hrs of collection. PROCESSING INSTRUCTIONS: 1. Draw blood in a Sodium Heparin (green-top) tube. 2. Take 2mL aliquot of whole blood into plastic pour off tube and centrifuge for 10 minutes at 2,000 rpm. 3. Carefully pull off the plasma and buffy coat layers from the aliquot with pipette. 4. Add a cold 0.9% saline solution to the cells (about 2 times the volume of cells). 5. Mix gently by inversion and centrifuge again for 10 minutes at 2,000 rpm. 6. Carefully pull off and discard the saline from the top of the cells with pipette. 7. Repeat the wash steps (3-5) 2 more times. 8. After the final centrifugation, Carefully pull off and discard the saline with pipette and a thin layer of the top cells. 9. Immediately freeze the washed, packed cells (red cell pellet from step 7) and send specimen frozen in plastic vial. ------ 10/25/17 add components and link - JK |
| Lab Section | Reference Lab |