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.