Thymidine and Deoxyuridine Analytes (Plasma)

CPT: 82017; 82570
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Special Instructions

This assay is not currently available in New York state.


Expected Turnaround Time

10 - 14 days



Specimen Requirements


Specimen

Plasma, frozen


Volume

1.0 mL


Minimum Volume

0.5 mL


Container

Green-top (heparin) tube; lavender-top (EDTA) tube


Collection

Collect 2-4 mL blood in sodium heparin (green-top) or EDTA (purple-top) tube.


Storage Instructions

Remove plasma and freeze at -20°C. Store frozen at -20°C and ship frozen.


Stability Requirements

Temperature

Period

Room temperature

Unstable

Refrigerated

Unstable

Frozen

Indefinitely

Freeze/thaw cycles

Indefinitely


Causes for Rejection

Thawed sample


Test Details


Use

Plasma Thymidine/Deoxyuridine analyte is used for 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). 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 mitochrondrial DNA. TP is a cytosolic enzyme required for nucleoside homeostatis. 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.


Limitations

This test was developed and its performance characteristics determined by LabCorp. It has not been cleared or approved by the Food and Drug Administration.


Methodology

High-pressure liquid chromatography (HPLC)


LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
620173 Thymidine/Deoxyuridine Plasma 79665-6 230163 Specimen Status N/A
620173 Thymidine/Deoxyuridine Plasma 79665-6 620168 Thymidine Result 48162-2
620173 Thymidine/Deoxyuridine Plasma 79665-6 620188 Deoxyuridine Result 47957-6
620173 Thymidine/Deoxyuridine Plasma 79665-6 620169 Interpretation N/A

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