Carbohydrate metabolism defects

Galactose-1-phosphate uridyltransferase (GALT)

Disease

Galactosemia type 1.

Description

Galactose-1-phosphate uridyltransferase (GALT) catalyzes the second step in the degradation of galactose. GALT is deficient in galactosemia type 1.

OMIM

230400

Method

Radiochemistry

Price

€ 425

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.
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

    Radiochemistry.

    Price:

    • € 425.

        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.
                Uridine-diphosphate galactose epimerase (GALE)

                Disease

                Galactosemia type 3.

                Description

                Uridine-diphosphate galactose epimerase (GALE) catalyzes an obligatory step in the degradation of galactose. GALE is deficient in galactosemia type 3.

                OMIM

                230350

                Method

                HPLC-UV

                Price

                € 425

                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.

                Cultured skin fibroblasts

                • Conditions: Room temperature.
                • Specifics:Grow the to near confluence (~ 80% confluent) in a T-25 flask, fill the flask completely with sterile buffered (with 25mM Hepes) culture medium (for example HAM or DMEM) supplemented with 10% serum and 1% penicilline-streptomycine. Cap the flasks tightly and wrap the cap with parafilm. Label the flask clearly with identifying information (name of patient and date of birth), wrap the culture flaks in protective material and place it in a sealed plastic bag in the Styrofoam shipping box and ship AT ROOM TEMPERATURE by courier service. Fibroblasts need to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
                  If it is not possible to culture fibroblasts from a skin biopsy in a local institute, you can send a in sterile buffered (with 25mM Hepes) culture medium (for example HAM or DMEM) without serum or antibiotics AT ROOM TEMPERATURE by courier service. The skin biopsy needs to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
                • TAT: 3 months.

                Glucose 6-phosphate dehydrogenase (G6PD)

                Disease

                G6PD deficiency.

                Description

                Glucose 6-phosphate dehydrogenase (G6PD) is the first enzyme of the pentose phosphate pathway.

                Please note that this enzyme assay can only be used for detection of G6PD deficiency in men or homozygote women, but is not suitable for reliable detection of carriership for G6PD deficiency in women.

                OMIM

                305900

                Method

                Spectrophotometry

                Price

                € 250
                G6PD and PK activities are always measured in parallel and cannot be requested separately. Costs include measurement of both enzymes.

                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.
                Pyruvate kinase (PK)

                Disease

                PK deficiency.

                Description

                Pyruvate kinase (PK) is an essential enzyme in the glucose degradation pathway (glycolysis).

                OMIM

                266200

                Method

                Spectrophotometry

                Price

                € 250
                Please note that G6PD and PK activities are always measured in parallel and cannot be requested separately. Costs include measurement of both enzymes.

                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.