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

IllnessCADASIL

Request form illness

Summary

Short information

Guideline-curated single gene sequence analysis according to the clinical suspicion on CADASIL

ID
CS0150
Number of genes
1 Accredited laboratory test
Examined sequence length
7,0 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS + Sanger

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
NOTCH36966NM_000435.3AD

Informations about the disease

Clinical Comment

CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) repeatedly causes ischaemic attacks, cognitive loss up to and including dementia, migraine with aura and mood swings, apathy and white matter lesions. The onset, symptoms and progression of the disease vary between and within families. Most of the pathogenic genetic changes are found in the NOTCH3 gene, depending on their localisation, penetrance and symptomatology vary. The diagnostic yield is very variable and also depends on the quality of clinical diagnosis.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1500/

 

Synonyms
  • Allelic: Lateral meningocele syndrome (CADASIL)
  • Allelic: Myofibromatosis, infantile 2 (CADASIL)
  • Cerebral AD arteriopathy-subcortical infarcts-leukoencephalopathyV
  • Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 (CADASIL)
  • Cerebral arteriopathy, AD, + subcortical infarcts, leukoencephalopathy (CADASIL)
  • Hereditary multi-infarct dementia (CADASIL)
  • Sy: Migraine, encephalopathy, stroke, cognitive impairment, dementia, seizures
Heredity, heredity patterns etc.
  • AD
OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined