Purine and pyrimidine metabolism defects
Disease
ADA deficiency.
Description
Adenosine deaminase (ADA) catalyzes the deamination of adenosine to inosine and a deficiency leads to a form of severe combined immunodeficiency (SCID). Elevated ADA activity is associated with Blackfan Diamond Anemia.
OMIM
Method
HPLC-UV
Price
€ 472
Materials:
Whole EDTA blood
- Test material: Blood spots.
- Conditions: room temperature.
- Specifics: At least 4.5 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 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: 3 weeks.
Blood spots
- Conditions: Room temperature.
- Specifics: 4 blood spots are prepared on Guthrie cards with 40 µl EDTA-anticoagulated blood per spot. The Guthrie card is to be air-dried at room temperature for 4 hours. The Guthrie card has to be clearly labeled (with name of patient and date of birth) and should arrive at our laboratory at room temperature within 3 days.
- TAT: 3 weeks.
Disease
Adenosine deaminase 2 deficiency.
Description
Adenosine deaminase 2 (ADA) catalyzes the deamination of adenosine to inosine and a deficiency is associated with a spectrum of vascular and inflammatory phenotypes including polyarteritis nodosa vasculopathy.
OMIM
Method
HPLC-UV
Price
€ 472
Materials:
Whole EDTA blood
- Test material: Plasma
- Conditions: room temperature.
- Specifics: At least 4.5 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 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: 3 weeks.
EDTA plasma
- Test material: Plasma.
- Conditions: Dry ice.
- Specifics: 100 µl plasma from EDTA blood of the patient should be sent in clearly labeled (with name of patient and date of birth), tightly capped tubes, stored at -80°C and subsequently shipped on dry ice. Please complete the test request form and send it along with the sample.
- TAT: 3 weeks.
Disease
β-UP deficiency.
Description
β-Ureidopropionase (β-UP) catalyzes the third reaction of the pyrimidine degradation pathway. A deficiency is associated with neurological abnormalities.
OMIM
Method
HPLC-Radiochemistry
Price
€ 722
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.
Disease
DHP deficiency.
Description
Dihydropyrimidinase (DHP) catalyzes the second reaction of the pyrimidine degradation pathway. A deficiency is associated with neurological abnormalities and fluoropyrimidine toxicity.
OMIM
Method
HPLC-Radiochemistry
Price
€ 722
Materials:
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.
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.
Disease
Lesch-Nyhan syndrome or HGPRT deficiency.
Description
Hypoxanthine-guanine phosphoribosyltransferase (HGPRT) has a central role in the generation of purine nucleotides through the purine salvage pathway. HGPRT (EC 2.4.2.8), catalyzes the conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate. A deficiency is associated with Lesch-Nyhan disease (OMIM 300322).
OMIM
Method
HPLC-UV
Price
€ 472
Materials:
Whole EDTA blood
- Test material: Erythrocytes isolated from whole blood.
- Conditions: room temperature.
- Specifics: 2-5 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 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: 3 weeks.
Erythrocytes
- Test material: Erythrocytes.
- Conditions: Dry ice.
- Specifics: 200 µl packed erythrocytes from EDTA blood of the patient should be sent in clearly labeled (with name of patient and date of birth), tightly capped tubes, stored at -80 °C and subsequently shipped on dry ice. Do not use PBS for preparation of packed erytrocytes but use 0.9% NaCl. Please complete the test request form and send it along with the sample.
- TAT: 3 weeks.
Disease
PRPP synthetase deficiency or superactivity.
Description
Phosphoribosylpyrophosphate synthetase (PRPPs) is the first enzyme of the purine de novo pathway and a superactivity leads to gout. A deficiency is associated with Charcot-Marie-Tooth Disease and Arts syndrome.
OMIM
Method
HPLC-UV
Price
€ 472
Materials:
Whole EDTA blood
- Test material: Erythrocytes isolated from whole blood.
- Conditions: room temperature.
- Specifics: 2-5 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 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: 3 weeks.
Erythrocytes
- Test material: Erythrocytes.
- Conditions: Dry ice.
- Specifics: 200 µl packed erythrocytes from EDTA blood of the patient should be sent in clearly labeled (with name of patient and date of birth), tightly capped tubes, stored at -80 °C and subsequently shipped on dry ice. Do not use PBS for preparation of packed erytrocytes but, use 0.9% NaCl. Please complete the test request form and send it along with the sample.
- TAT: 3 weeks.
Disease
PNP deficiency.
Description
Purine nucleoside phosphorylase (PNP) is an essential enzyme of the purine degradation pathway and patients with PNP deficiency are diagnosed by severe T-cell immunodysfunction, hypouricemia.
OMIM
Method
HPLC-UV
Price
€ 472
Materials:
Whole EDTA blood
- Test material: Blood spots.
- Conditions: room temperature.
- Specifics: At least 4.5 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 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: 3 weeks.
Blood spots
- Conditions: Room temperature.
- Specifics: 4 blood spots are prepared on Guthrie cards with 40 µl EDTA-anticoagulated blood per spot. The Guthrie card is to be air-dried at room temperature for 4 hours. The Guthrie card has to be clearly labeled (with name of patient and date of birth) and should arrive at our laboratory at room temperature within 3 days.
- TAT: 3 weeks.
Disease
TPMT deficiency.
Description
Thiopurine methyltransferase (TPMT) catalyzes the methylation of 6-mercaptopurine.
OMIM
Method
HPLC-UV
Price
€ 472
Materials:
Whole EDTA blood
- Test material: Erythrocytes isolated from whole blood.
- Conditions: room temperature.
- Specifics: 2-5 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 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: 3 weeks.
Erythrocytes
- Test material: Erythrocytes.
- Conditions: Dry ice.
- Specifics: 200 µl packed erythrocytes from EDTA blood of the patient should be sent in clearly labeled (with name of patient and date of birth), tightly capped tubes, stored at -80 °C and subsequently shipped on dry ice. Please complete the test request form and send it along with the sample.
- TAT: 3 weeks.
Disease
MNGIE.
Description
Thymidine phosphorylase (TP) catalyzes the degradation of thymidine and a deficiency is associated with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).
OMIM
Price
€ 472
Method
HPLC-UV
Materials:
Whole EDTA blood
- Test material: Blood spots / leukocytes.
- Conditions: room temperature.
- Specifics: 2-5 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 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: 3 weeks.
Blood spots
- Conditions: Room temperature.
- Specifics: 4 blood spots are prepared on Guthrie cards with 40 µl EDTA-anticoagulated blood per spot. The Guthrie card is to be air-dried at room temperature for 4 hours. The Guthrie card has to be clearly labeled (with name of patient and date of birth) and should arrive at our laboratory at room temperature within 3 days.
- TAT: 3 weeks.
Disease
UMP synthase deficiency.
Description
UMP synthase catalyzes the synthesis of UMP from orotate and a deficiency leads to orotic aciduria and macrocytic hypochromic megaloblastic anemia.
OMIM
Method
HPLC-Radiochemistry
Price
€ 722
Materials:
Whole EDTA blood
- Test material: Erythrocytes isolated from whole blood.
- Conditions: room temperature.
- Specifics: 2-5 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 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: 3 weeks.
Erythrocytes
- Test material: Erythrocytes.
- Conditions: Dry ice.
- Specifics: 200 µl packed erythrocytes from EDTA blood of the patient should be sent in clearly labeled (with name of patient and date of birth), tightly capped tubes, stored at -80 °C and subsequently shipped on dry ice. Please complete the test request form and send it along with the sample.
- TAT: 3 weeks.