Use to monitor treatment, response, and compliance with dietary restriction for patients with an established diagnosis of galactosemia

Lavender (EDTA), 4mL

• Immediately following collection, mix sample thoroughly by gentle inverting 8 - 10 times to prevent clotting
• Place tube on wet ice immediately after collection
• Do not freeze

Lavender (EDTA), 4mL

Dk green heparin (Li or Na), no gel

Washed, packed RBC's:

1. Centrifuge whole blood immediately for 10 minutes
2. Discard the plasma and buffy coat layers
3. Add cold 0.9 percent saline solution to the red blood cells (about 2 times the volume of cells) and mix gently by inverting the tube
4. Centrifuge for 10 minutes
5. Aspirate and discard the supernatant
6. Repeat the wash (steps 3 through 5) 2 more times
7. After the third wash and centrifugation, remove the supernatant and a thin layer of the top cells
8. Transfer washed cells to a Screw-cap polypropylene frozen transport vial/tube - 4mL (LabCorp) labeled as washed cells and freeze
9. Include an ORDER COMMENT stating the specimen is washed, packed red blood cells.

Whole blood:

Dk green heparin (Li or Na), no gel

Washed, packed RBC's:

Screw-cap polypropylene frozen transport vial/tube - 4mL (LabCorp)

Whole blood:

Refrigerated - 72 hours

Ambient - NO

Frozen - NO

Packed RBC (alternative):

Frozen

• Whole blood received at room temperature or frozen are unacceptable
• RBC’s received at room temperature or refrigerated

Gas Chromatography-Mass Spectrometry (GC-MS)

Galactose-1-phosphate:   0.0-1.0 mg/dL

Galactose-1-phosphate:   0-53 µg/g Hb

Galactose-1-phosphate:  0.00-0.20 µmol/g Hb