THYMIDINE DETERMINATION
Deoxynucleosides, MNGIE disease
BIOCHEMICAL ANALYSIS

Description:

Under normal circumstances the levels of thymidine in plasma and urine is very low (< 20 nM) however, in some physiological states the levels may be significantly elevated. Clinically, these deficiency states are associated with mitochondrial depletion syndromes. The best studied is thymidine phosphorlyase deficiency which causes MNGIE disease. Thymidine is separated by HPLC and detected with tandem mass spectroscopy.

Specimen Requirements:

0.5 to 1.0 ml of plasma. Plasma is the specimen of choice for diagnostic studies. Store the specimen frozen at -20oC. Specimens may be stored for not more than 1 month.

Normal Range:

Plasma: < 150 nM

Turnaround Time:

2 weeks

CPT Codes and Prices:

83789x4

Shipping Information

Forms:

>> Biochemical Requisition

Test Codes:

4330