Cholesteryl Esters, Serum

Casandra

Casandra Test Code MC78423Version 1 (DRAFT)

Performing Lab

Lab Mayo Clinic LabLab Test ID CHLECPT Code 84311

Cholesteryl Esters, Serum

Clinical Use

Use

The test for cholesteryl esters, serum, is primarily used to establish the diagnosis of lecithin-cholesterol acyltransferase (LCAT) deficiency, a rare metabolic disorder. It is also instrumental in evaluating the impact of metabolic disturbances caused by bile stasis or liver disease. LCAT is crucial for cholesterol metabolism, and its deficiency can lead to significant health issues, including early atherosclerosis, corneal opacification, hyperlipidemia, and mild hemolytic anemia. The test measures the esterification percentage of serum cholesterol, which is typically between 60% and 80% in healthy individuals, but significantly lower in those with LCAT deficiency.

Special Instructions

Not provided.

Limitations

The test for cholesteryl esters, serum, has limitations primarily related to the handling and collection of the specimen. Gross hemolysis and icterus can cause the specimen to be rejected. The stability of the specimen at various temperatures is also a limiting factor, with refrigeration being preferred. Cholesteryl ester storage disease is a complex metabolic condition that may not be directly identified through this test alone, as it requires evaluation of cholesteryl ester hydrolase activity and content in leukocytes, fibroblasts, or liver biopsy specimens. Additionally, this test has not been cleared or approved by the FDA, which might affect its use in certain regulatory contexts.

Test Details

New York Approved