Diagnostic Services for Cerebrotendinous xanthomatosis

A complete diagnostic program
From biochemical to genetic testing from the same Dried Blood Spot.

ctx-diagnostics

Available quantitative small molecule test:

 
Cholestanetetrol glucuronide (Tetrol)
Taurochenodeoxycholic acid (t-CDCA)

Available genetic test:

Disease Gene
Cerebrotendinous
xanthomatosis
CYP27A1