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.