Thymidine/Deoxyuridine Analytes (Plasma)
|| HPLC/UV Detection
|TAT (TURNAROUND TIME)
||10 - 14 days
||Plasma Thymidine/Deoxyuridine analyte (MET12) is used for the diagnosis of Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). Thymidine phosphorylase Enzyme Analysis (ENZ06) 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. MNGIE patients may benefit from hematopoietic stem cell transplantation.
Mitochondrial Neurogastrointestinal Encephalopathy Disease, Thymidine Phosphorylase Deficiency
|Acceptable Sample Types
||Collect 2-4 milliliters of blood in sodium heparin (green top) or EDTA (purple top) tube. Remove plasma and freeze at -20°Celsius. Store frozen at –20°Celsius and ship frozen. Preferred volume: 1.0 milliliter, minimum volume: 0.5 milliliter
||Ship samples priority overnight on 3-4 lbs of dry ice. Sample must arrive in our lab Monday - Saturday. We do NOT accept Sunday or holiday deliveries.
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