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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
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IllnessCerebrotendinous xanthomatosis, CTX

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Summary

Short information

Curated single gene sequence analysis according to clinical suspicion cerebrotendinous Xanthomatosis

ID
CS9933
Number of genes
1 Accredited laboratory test
Examined sequence length
1,6 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
CYP27A11596NM_000784.4AR

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/

 

Synonyms
  • Alias: Sterol 27-hydroxylase deficiency (CYP27A1)
  • Alias: Zerebrotendinöse Xanthomatose (CYP27A1)
  • CTX (CYP27A1)
  • Cerebrotendinous xanthomatosis (CYP27A1)
Heredity, heredity patterns etc.
  • AR
OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined