Coenzyme Q10 is produced by the body and is necessary for basic cell functioning. Deficiencies in coenzyme Q10 can be primary or secondary. Primary coenzyme Q10 deficiency is a rare autosomal recessive genetic condition with a clinically heterogeneous presentation that can include:
- renal failure
- cerebellar atrophy
- Leigh Syndrome
- growth retardation
- delayed motor development
- lactic acidemia
- hypergonadotropic hypogonadism/myopathy
Individuals with primary coenzyme Q10 deficiency will have decreased levels of coenzyme Q10 in plasma as well as in skeletal muscle. Secondary coenzyme Q10 deficiency has been seen in individuals with several chronic disorders such as heart conditions, muscular dystrophies, Parkinson's disease, and in mitochondrial disorders such as MELAS and Kearns-Sayre. Additionally, some prescription drugs can lead to a decrease in coenzyme Q10 levels.
This test is indicated for:
- Patients in which a primary coenzyme Q10 deficiency is suspected.
- Patients who are diagnosed as having conditions known to lead to secondary coenzyme Q10 deficiency.
- Monitoring levels of coenzyme Q10 in blood during treatment of primary/secondary coenzyme Q10 deficiency.
Electrospray Tandem Mass Spectrometry (MS MS)
Detection and Reference Range
Test results should be interpreted in light of patient's age and medications.
>18 years of age: 0.57-3.03 ug/ml in plasma
Specimen Requirements:In EDTA (purple top) tube: 1-5 ml
Sample should be collected while fasting or 2-4 hours postprandial.
Centrifuge to separate plasma and freeze. Protect from light.
Specimen Collection and Shipping: Ship frozen sample on dry ice with overnight delivery.
Please indicate any medications or Co Q10 supplementation on the test requisition form.
- Mitochondrial Genome Sequence Analysis (JD) can be used to diagnose oxidative phosphorylation disorders.