Galactokinase (GALK)

Disease:

Galactosemia type 2.

Description:

Galactokinase (GALK) catalyzes the first step in the degradation of galactose. GALK is deficient in galactosemia type 2.

OMIM:

    Method

    UPLC-MS/MS

    Price:

    • € 472

        Test request form Enzyme diagnostics

        Test request form Enzyme diagnostics.pdf
        1.918 Kb
        V8

        Materials:

              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.