Purine and pyrimidine metabolism defects

Adenosine Deaminase (ADA)

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

603041 105650

    Method

    HPLC-UV

    Price

    € 425

    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.
    Adenosine Deaminase 2 (ADA2)

    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

    607575

      Method

      HPLC-UV

      Price

      € 425

      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.

      β-Ureidopropionase (β-UP)

      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

      606673

      Method

      HPLC-Radiochemistry

      Price

      € 650


      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.
      Dihydropyrimidinase (DHP)

      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

      222748

      Method

      HPLC-Radiochemistry

      Price

      € 650

      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.
      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.
        Hypoxanthine-guanine phosphoribosyltransferase (HGPRT)

        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

        164050 300322

        Method

        HPLC-UV

        Price

        € 425

        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.
        Phosphoribosylpyrophosphate synthetase (PRPPs)

        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

        300661 311850

        Method

        HPLC-UV

        Price

        € 425

          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.
          Purine Nucleoside Phosphorylase (PNP)

          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

          164050

          Method

          HPLC-UV

          Price

          € 425

          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.
          Thiopurine methyltransferase (TPMT)

          Disease

          TPMT deficiency.

          Description

          Thiopurine methyltransferase (TPMT) catalyzes the methylation of 6-mercaptopurine.

          OMIM

          606673 610460

          Method

          HPLC-UV

          Price

          € 425

          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.
          Thymidine phosphorlylase (TP)

          Disease

          MNGIE.

          Description

          Thymidine phosphorylase (TP) catalyzes the degradation of thymidine and a deficiency is associated with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).

          OMIM

          603041

          Price

          € 425

          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.
          UMP synthase

          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

          613891

          Method

          HPLC-Radiochemistry

          Price

          € 650

          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.