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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessCerebrotendinous Xanthomatosis, CTX; differential diagnosis


Short information

Comprehensive differential diagnostic panel for cerebrotendinous xanthomatosis comprising 1 guideline-curated gene and altogether 7 curated genes according to the clinical signs

Number of genes
6 Accredited laboratory test
Examined sequence length
1,6 kb (Core-/Core-canditate-Genes)
24,0 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications



Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
APOB13692NM_000384.3AD, AR

Informations about the disease

Clinical Comment

Cerebrotendinous Xanthomatosis manifests as fat storage disease in childhood with cataracts, in adolescents with tendon xanthomas and in adults with dementia and psychiatric abnormalities as well as progressive neurological dysfunction (pyramidal tract and cerebellar signs, dystonia, atypical parkinsonism, peripheral neuropathy, seizures). CTX diagnosis is established biochemically in blood and urine via cholestanol detection. CTX follows the autosomal recessive inheritance pattern. Together with extensive deletion/duplication analysis, DNA sequencing is used to molecularly clarify virtually all clinically definite cases, confirming the clinical diagnosis.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1409/


  • Alias: Sterol 27-hydroxylase deficiency (CYP27A1)
  • Alias: Zerebrotendinöse Xanthomatose (CYP27A1)
  • Allelic: Gallbladder disease 4 (ABCG8)
  • Allelic: Hypobetalipoproteinemia (APOB)
  • Allelic: LDL cholesterol level QTL2
  • Allelic: Low density lipoprotein cholesterol level QTL 1 (PCSK9)
  • Cerebrotendinous xanthomatosis (CYP27A1)
  • Hypercholesterolemia, familial, 1 (LDLR)
  • Hypercholesterolemia, familial, 2 (APOB)
  • Hypercholesterolemia, familial, 3 (PCSK9)
  • Myotonic dystrophy 1 (DMPK_CTG)
  • Sitosterolemia 1 (ABCG8)
  • Sitosterolemia 2 (ABCG5)
Heredity, heredity patterns etc.
  • AD
  • AR
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined