For the safety of our patients and employees in Texas, Oklahoma, Missouri and Arkansas, the current winter weather may affect patient service center hours. Please review the list of affected locations for further information.
This assay is not currently available in New York state.
14 - 21 days
Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.
Yellow-top (ACD) tube
Ship within 24 hours.
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 Sequencung 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, peripherl neuropathy, myopathy, and leukoencephalopathy. Molecular genetic studies of MNGIE patients' tissues have reveled mutlitple 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 drmatically elevated. MNGIE may benefit from hematopoietic stem cell transplantation.
This test was developed and its performance characteristics determined by LabCorp. It has not been cleared or approved by the Food and Drug Administration.
High-pressure liquid chromatography (HPLC)
© 2021 Laboratory Corporation of America® Holdings and Lexi-Comp Inc. All Rights Reserved.
The LOINC® codes are copyright © 1994-2021, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. Permission is granted in perpetuity, without payment of license fees or royalties, to use, copy, or distribute the LOINC® codes for any commercial or non-commercial purpose, subject to the terms under the license agreement found at https://loinc.org/license/. Additional information regarding LOINC® codes can be found at LOINC.org, including the LOINC Manual, which can be downloaded at LOINC.org/downloads/files/LOINCManual.pdf