Thymidine Determination - Plasma

Casandra

Casandra Test Code BA85744Version 1 (DRAFT)

Performing Lab

Lab Baylor GeneticsLab Test ID 4330CPT Code 83789

Thymidine Determination - Plasma

Clinical Use

Use

The Thymidine Determination - Plasma test quantifies thymidine levels in plasma. This assessment is particularly relevant for patients diagnosed or suspected to have Mitochondrial Neurogastrointestinal Encephalopathy Disease (MNGIE), which is a rare and progressive disorder. MNGIE is characterized by a range of symptoms including gastrointestinal dysmotility, cachexia, peripheral neuropathy, and leukoencephalopathy. It commonly presents between the first and fifth decades of life, with symptoms that are not predictable in their onset. Individuals diagnosed with MNGIE exhibit elevated thymidine concentrations, which can aid in confirming the diagnosis and understanding the disorder's impact on metabolism and energy production.

Special Instructions

Thymidine Determination is essential for diagnosing MNGIE. It is particularly important for patients suspected of this condition, as early identification may significantly impact patient management. Blood should be drawn in a Sodium Heparin tube and separated immediately. The collected plasma must be kept frozen to ensure sample integrity, which is vital for accurate analysis. Submit the specimen under controlled shipping conditions to avoid degradation during transport.

Limitations

Test results may vary based on factors such as individual patient metabolism and type of sample collection. Elevated thymidine levels might not solely confirm MNGIE as levels can fluctuate due to other pathological states. Results should be interpreted in the context of an overall assessment including clinical symptoms, family history, and other diagnostic findings to avoid misclassification or unnecessary concern.

Test Details