Test Catalog

Test ID: CTXBS    
Cerebrotendinous Xanthomatosis, Blood Spot

Useful For Suggests clinical disorders or settings where the test may be helpful

Evaluating patients with a clinical suspicion of cerebrotendinous xanthomatosis (CTX)

 

Monitoring individuals with CTX on chenodeoxycholic acid (CDCA) therapy

 

This test is not useful for the identification of carriers

 

This test is not useful for the evaluation of bile acid malabsorption

Special Instructions Library of PDFs including pertinent information and forms related to the test

Method Name A short description of the method used to perform the test

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

NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

Cerebrotendinous Xanthomatosis, BS

Aliases Lists additional common names for a test, as an aid in searching

Cerebral cholesterinosis
Cerebrotendinous cholesterosis
Van Bogaert-Scherer-Epstein syndrome
Sterol 27-hydrolase deficiency
Ketosterols
7a-hydroxy-4-cholesten-3-one
7aC4
7-a,12 a-dihydroxycholest-4-en-3-one
12aC4
7a12aC4
7,12aC4