|Purine Nucleoside Phosphorylase Enzyme Analysis
||This test provides enzymatic analysis of Purine Nucleoside Phosphorylase for Confirmation of Clinical Diagnosis.
Purine Nucleoside Phosphorylase is deficient in Purine Nucleoside Phosphorylase Deficiency, severe combined immune deficiency.
Results from this assay are not useful for carrier determination. Carriers may have levels in the normal range.
The Preferred Sample Type for this assay is Red Blood Cells (#4592). This test can also be performed on Skin Fibroblast Culture (#4593). If the patient has been transfused, we recommend performing this assay on White Blood Cells (#4594).
Results from this test are not useful for Carrier Testing. Please note, carriers may have Purine Nucleoside Phosphorylase levels in the normal range.
||Purine nucleoside phosphorylase (PNP)