Use to monitor treatment, response, and compliance with dietary restriction for patients with an established diagnosis of galactosemia. To diagnose or rule out galactosemia, refer to Galactosemia (GALT) Enzyme Activity and 9 Mutations (0051175).
Gas Chromatography-Mass Spectrometry (GC-MS)
Lavender (EDTA) or green (sodium or lithium heparin).
DO NOT FREEZE. Place tube on wet ice immediately after collection. Transport 5 mL whole blood. (Min: 2 mL)
Frozen or room temperature specimens.
Ambient: Unacceptable; Refrigerated: 72 hours; Frozen: Unacceptable
|Galactose-1-phosphate (mg/dL)||0.0-1.0 mg/dL|
|Galactose-1-phosphate (ug/g Hb)||0-53 ug/g Hb|
|Galactose-1-phosphate (umol/g Hb)||0.00-0.20 umol/g Hb|
Laboratory Developed Test (LDT)
Alternate acceptable specimen is frozen, washed red blood cells.
1. Centrifuge whole blood immediately for 10 minutes at 800 g RCF.
2. Discard the plasma and buffy coat layers.
3. Add cold 0.9 percent saline solution to the red cells (about 2 times the volume of cells) and mix gently by inverting the tube.
4. Centrifuge for 10 minutes at 800 g RCF.
5. Aspirate and discard the supernatant.
6. Repeat the wash (steps 3 through 5) 2 more times.
7. After the 3rd wash and centrifugation, remove the supernatant and a thin layer of the top cells.
8. Transfer washed cells to an ARUP standard transport tube and freeze. Ship on dry ice and include an ORDER COMMENT stating the specimen is washed, packed red blood cells.
Washed red cells must be frozen. Ambient and refrigerated washed cells are unacceptable
|Component Test Code*||Component Chart Name||LOINC|
|0081299||Galactose-1-phosphate (ug/g Hb)||33360-9|
|0081300||Galactose-1-phosphate (umol/g Hb)||38485-9|
- Galactose 1
- Galactose 1 Phosphate
- Galactosemia Analyte
- Galactosemia Metabolite(s)
- GALT Analyte
- RBC GAL1P