CHOLESTANOL

Message
WILDCODE NEEDED. CALL CARRIE EXT 4171.
SEND TO QUEST.
SHIP FROZEN

Test Code
CHOLESTANOL

Alias/See Also
BILL CODE 409669

CPT Codes
82542

Preferred Specimen
EDTA PLASMA (FROZEN) . SHIP ON DRY ICE.

Minimum Volume
1.0 ML

Other Acceptable Specimens
Sodium Heparin plasma.

Clinical Significance
Cholestanol, not cholesterol, is a minor component in the human body and in foods, but an increase in cholestanol concentration in serum induces a pathological condition named cerebrotendinous xanthomatosis (CTX). In our investigation of this disease for more than 25 years, a procedure for quantification of cholestanol by high-performance liquid chromatography and an assay method for sterol 27-hydroxylase were established, and several mutations of the CYP 27 gene in 10 CTX families were identified. We also established experimental animal models with symptoms of CTX by feeding a high cholestanol diet. Corneal dystrophy and gallstones were produced in mice, and an apoptosis of cerebellar neuronal cells was observed in rats. We propose the following underlying mechanism of CTX pathogenesis: When cholesterol in the plasma membrane is replaced by cholestanol to some extent, the membrane fluidity is reduced, and the calcium channel fails to open, inducing cell death. CTX patients are treated with oral administration of chenodeoxycholic acid, which reduces the cholestanol concentration in serum. Cholestanol has a toxic effect, and an imbalance of the cholesterol/cholestanol ratio in plasma membrane is suspected to cause the disturbance of calcium channel function of the membrane.

Performing Laboratory
QUEST SENDS TO:
KENNEDY KRIEGER INSTITUTES



The CPT Codes provided in this document are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed. Any Profile/panel component may be ordered separately. Reflex tests are performed at an additional charge.