Thymidine and Deoxyuridine Analytes (Plasma)

CPT: 82542
Updated on 12/5/2024
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Special Instructions

This assay currently is not available in New York state.

This assay is not currently available in New York state.

This assay currently is not available in New York state.

This assay is not currently available in New York state.

This assay currently is not 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

Sterile screw capped vial


Collection

Collect 2-4 mL blood in sodium heparin (green-top), EDTA (purple-top) tube, or ACD (yellow-top) tube. Remove plasma and freeze at -20°C.


Storage Instructions

Store frozen at -20°C and ship frozen.


Stability Requirements

Temperature
Room temperature
PeriodUnstable
Refrigerated
Period24 hours
Frozen
PeriodIndefinitely
Freeze/thaw cycles
PeriodNone
TemperaturePeriod
Room temperatureUnstable
Refrigerated24 hours
FrozenIndefinitely
Freeze/thaw cyclesNone

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

Liquid chromatography/tandem mass spectrometry (LC/MS-MS)


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