Disease
Hyperoxaluria type 2.
Description
Glyoxylate reductase (GR) catalyzes the reversible reaction of glyoxylate to glycolate and is deficient in primary hyperoxaluria type 2.
OMIM
Method
Spectrophotometry
Price
€ 472
Materials:
Whole EDTA blood
- Test material: Peripheral blood mononuclear cells isolated from whole blood.
- Conditions: Room temperature.
- Specifics: At least 10 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.
Liver
- Test material: Liver Biopsy.
- Conditions: Dry ice.
- Specifics: Liver needle biopsies (> 10 mg wet weight) should be frozen immediately in liquid nitrogen, stored at -80 °C and subsequently shipped by courier service on dry ice. Do not add any fixative or other fluid! The liver biopsy needs to arrive in our laboratory within 24 hours. Please complete the test request form and send it along with the sample.
- TAT: 3 weeks.
* Note: This test is not covered by the ISO15189 accreditation of the laboratory.