Dihydropyrimidine dehydrogenase (DPD)

Disease

DPD deficiency.

Description

Catalyzes the first reaction of the pyrimidine degradation pathway. A deficiency is associated with neurological abnormalities and severe 5FU toxicity.

OMIM

274270

Method

HPLC-Radiochemistry

Price

€ 650

    Materials:


    Whole EDTA blood

    • Test material: peripheral blood mononuclear cells isolated from whole blood.
    • Conditions: room temperature.
    • Specifics: At least 15 ml EDTA blood of the patient should be sent 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 36 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 fibroblasts 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 skin biopsy 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.

    Liver

    • Test material: Liver biopsy.
    • Conditions: Dry ice.
    • Specifics: Liver needle biopsies (> 50 mg wet weight) should be frozen immediately in liquid nitrogen, stored at -80 °C, clearly labeled (with name of patient and date of birth), and subsequently shipped by courier service on dry ice. Please make sure to add enough dry ice for the sample to reach our laboratory in a fully frozen state. Do not add any fixative or other fluid! Please complete the test request form and send it along with the sample.
    • TAT: 3 weeks.