Test Catalog

Test ID: CTXWB    
Cerebrotendinous Xanthomatosis, Blood

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

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

 

Monitoring of individuals with CTX on chenodeoxycholic acid (CDCA) therapy

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, B

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
7a,12a-dihydroxycholest-4-en-3-one
12aC4
7a12aC4
7,12aC4