Biochemical and genetic testing can be used to help diagnose CTX

Biochemical testing is used to screen for CTX

The CTX dried blood spot test uses high performance liquid chromatography-tandem mass spectrometry to measure levels of 7α, 12α-Dihydroxy-4-cholesten-3-one (7α12αC4), a marker which is elevated in CTX patients. Cholestanol is another marker that can be measured to screen for CTX.

Genetic sequencing may be used to confirm CTX¹

A clinical geneticist/metabolic specialist may diagnose CTX based on clinical symptoms and results from biochemical testing, or choose to do a confirmatory genetic test.¹ When choosing to do genetic testing for CTX, a physician has the option to use a duplication/deletion and/or sequence analysis that specifically targets the CYP27A1 gene or a panel that tests for a variety of metabolic or mitochondrial disorders.¹