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Thymidine/Deoxyuridine Analytes (Plasma)

CPT: 82542

Specimen Requirements




1 mL

Minimum Volume

0.5 mL


Sterile screw capped vial


Blood: Collect 1-4 milliliters blood in sodium heparin (green top) tube. Remove plasma and freeze at -20°Celsius or below. Preferred volume: 1.0 milliliter, minimum volume: 0.5 milliliter

Storage Instructions

Freeze as soon as possible after collection; Ship within 24 hours. 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.

Stability Requirements

Room Temperature: Not stable; Refrigerated: 24 hours; Frozen: 72 hours @ -20C, Indefinitely @ -80C; Freeze/Thaw: None

Causes for Rejection

Incorrect sample type received; Sample received thawed; Sample hemolyzed or bloody

Test Details


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.



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