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.