Coenzyme Q10 (Leukocytes)

18 days

Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)

Cause for Rejection:
Quantity not sufficient for analysis; frozen specimen; specimen not received within four days of collection; incorrect specimen collection tube; gross hemolysis; unable to isolate viable white blood cells

Accredited Laboratory Partner

Measurement of coenzyme Q10 (CoQ10; ubiquinone) in leukocytes is used to support the diagnosis of primary and secondary CoQ10 deficiency disorders and to monitor response to CoQ10 replacement therapy. Because leukocyte CoQ10 reflects intracellular CoQ10 status, it serves as a useful complement to plasma CoQ10 measurements, which may be influenced by dietary intake, lipoprotein concentrations, and CoQ10 supplementation. CoQ10 is an essential component of the mitochondrial respiratory chain and plays a critical role in cellular energy production. It also functions as a major intracellular antioxidant, protecting cells from oxidative damage. This test is useful in the evaluation of patients with clinical features suggestive of CoQ10 deficiency, including encephalomyopathy, severe infantile multisystem disease, nephropathy, cerebellar ataxia, and isolated myopathy. Primary CoQ10 deficiency is a rare inherited disorder caused by biallelic pathogenic variants in genes involved in the CoQ10 biosynthetic pathway (e.g., COQ2, COQ4, COQ6, COQ8A, and COQ8B), resulting in impaired endogenous CoQ10 production. In contrast, secondary CoQ10 deficiency occurs when reduced CoQ10 levels develop as a consequence of another genetic, metabolic, or acquired condition rather than a primary defect in CoQ10 biosynthesis. Causes of secondary deficiency include mitochondrial disorders, fatty acid oxidation disorders, chronic medical conditions, and certain medications. Results should be interpreted in conjunction with the clinical presentation, family history, and findings from other biochemical, molecular genetic, and mitochondrial investigations."

Whole blood

5 mL

Yellow-top (ACD) tube

No special preparation is required for this test. You may eat, drink, and take your medications as normal, unless instructed otherwise by your healthcare provider.

Specimens must arrive at the laboratory within four days of collection and must be received Monday through Friday.