GENETIC AND BIOCHEMICAL TESTING ARE CRITICAL IN DIAGNOSING CTX
The diagnosis of CTX can be established from signs and symptoms suggestive of CTX along with biochemical testing or by a genetic test.
Genetic sequencing may be used to diagnose or confirm a diagnosis of CTX.1
- Single gene sequencing for CYP27A1, a gene panel that includes the CYP27A1 gene, or whole exome/genome sequencing are all genetic testing options that can identify CTX disease-causing variants.
Biochemical testing is used to screen for CTX.1,*
- Biochemical testing can provide additional evidence for diagnosis in patients with CYP27A1 variants.3
*Several confirmed cases of CTX are reported in the literature, in which cholestanol is within normal limits, so additional biochemical and genetic testing can help exclude or confirm the diagnosis in patients with clinical symptoms but a normal cholestanol level.2
If you suspect a patient has CTX, or may have been misdiagnosed with a different disorder, genetic testing can help confirm a CTX diagnosis.
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References:
1.
Federico A, Gallus GN. Cerebrotendinous xanthomatosis. 2003 Jul 16 [Updated 2022 Mar 17]. In: Adam MP, Feldman J, Mirzaa GM, et al., eds. GeneReviews® [Internet]. University of Washington, Seattle; 1993-2024. Accessed January 2024. https://www.ncbi.nlm.nih.gov/books/NBK1409/
2.
DeBarber AE, Schaefer EJ, Do J, et al. Genetically and clinically confirmed atypical cerebrotendinous xanthomatosis with normal cholestanol and marked elevations of bile acid precursors and bile alcohols. J Clin Lipidol. 2024;18(3):e465-e476. doi:10.1016/j.jacl.2024.03.004
3.
Stenos C, Kalafatakis K, Constantoulakis P, et al. A case of cerebrotendinous xanthomatosis with brain and spinal involvement without tendon xanthomas: Identification of a novel mutation of the CYP27A1 gene. J Clin Lipidol. 2022;16(3):281-285. doi:10.1016/j.jacl.2022.03.011
4.
Mignarri A, Gallus GN, Dotti MT, Federico A. A suspicion index for early diagnosis and treatment of cerebrotendinous xanthomatosis. J Inherit Metab Dis. 2014;37(3):421-429. doi:10.1007/s10545-013-9674-3
