Galactosemia type 1.
Galactose-1-phosphate uridyltransferase (GALT) catalyzes the second step in the degradation of galactose. GALT is deficient in galactosemia type 1.
Whole EDTA blood
- Test material: Erythrocytes.
- Conditions: Send preferably at 4°C, NOT frozen (otherwise at room temperature).
- Specifics: 2-5 ml EDTA blood of the patient should be sent at 4°C (if not possible at room temperature) in clearly labeled (with name of patient and date of birth), tightly capped tubes, wrapped in protective material, placed in a sealed plastic bag and shipped by courier service in a Styrofoam shipping box. Blood samples need to arrive in our laboratory within 48 hours after drawing. Include one blood sample as a control for shipment conditions. Please complete the test request form and send it along with the sample.
- TAT: 2 weeks.