Carbohydrate metabolism defects

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

€ 472

Test request form Enzyme diagnostics

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

€ 278
G6PD and PK activities are always measured in parallel and cannot be requested separately. Costs include measurement of both enzymes.

Test request form Enzyme diagnostics

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

€ 278
Please note that G6PD and PK activities are always measured in parallel and cannot be requested separately. Costs include measurement of both enzymes.

Test request form Enzyme diagnostics