Thymidine Phosphorylase Enzyme Analysis (Blood)

Whole blood - ACD

5 mL

2 mL

Whole blood ACD

Draw blood into ACD tube

Ship within 24 hours

Room Temperature: 5 days; Refrigerated: 5 days; Frozen: Do Not Freeze; Freeze/Thaw: None

Hemolyzed sample; Incorrect collection tube; Received frozen

Thymidine phosphorylase Enzyme Analysis is used for the diagnosis of Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). Thymidine phosphorylase Enzyme Analysis may also be used for assessment of Variants of Uncertain Significance (VUS) identified during genetic testing (e.g. Next Generation Sequencing or Capillary Sequencing Testing). CLINICAL MNGIE is an autosomal recessive disorder caused by mutations in the gene encoding thymidine phosphorylase (TP). The disease is characterized clinically by impaired eye movements, gastrointestinal dysmotility, cachexia, peripheral neuropathy, myopathy, and leukoencephalopathy. Molecular genetic studies of MNGIE patients' tissues have revealed multiple deletions, depletion, and site-specific point mutations of mitochondrial DNA. TP is a cytosolic enzyme required for nucleoside homeostasis. In MNGIE, TP activity is severely reduced and consequently levels of thymidine and deoxyuridine in plasma are dramatically elevated. MNGI may benefit from hematopoietic stem cell transplantation.

Enzymology/HPLC/UV Detection

Blood Enzymology Testing