Test Summary

Serum carnitine analysis is useful in the diagnosis and monitoring of patients with carnitine deficiency (either primary or secondary). Primary carnitine deficiency is an autosomal recessively inherited genetic condition that affects carnitine uptake by cells and tissues through a defect in the plasma membrane carnitine transporter. Secondary carnitine deficiency can be seen in some disease states or in patients on carnitine-poor diets, but is also seen in a number of metabolic disorders. In these disorders, carnitine complexes with the accumulated substrate of the blocked metabolic step, and the resulting acylcarnitine ester is excreted in the urine, leading to a depletion of carnitine in the patient.

Aliases

Specimen Collection

Special Instructions

Preferred Specimen

Minimum Volume

Instructions

Patient Preparation

Storage

Transport Temperature

Specimen Stability

Limitations

Other Acceptable Specimens

Unacceptable Specimens

Order Code

EPIC (Premier) Code

Includes

CPT Code

Billing Code

CPT Statement

Methodology

FDA Status

Physician Attestation of Informed Consent

Testing Laboratory

Department

Reference Range

Setup Schedule / Expected Turnaround Time