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
Method
HPLC-Radiochemistry
Price
€ 722
Attention:
Samples should arrive Monday through Thursday from 8:30 AM to 4:00 PM and Friday or the day prior to a national holiday before 12:00 AM (GMT+1.00). Our laboratory is closed on the national holidays, see Shipment & Contact
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.
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.