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



Short information

Curated single gene sequence analysis according to clinical suspicion CARASIL

Number of genes
1 Accredited laboratory test
Examined sequence length
1,5 kb (Core-/Core-canditate-Genes)
- (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
HTRA11443NM_002775.5AD, AR

Informations about the disease

Clinical Comment

Cerebral small vessel disease, early-onset gait disturbances, premature scalp alopecia, ischemic stroke, acute mid/lower back pain, progr. cognitive disturbances -> severe dementia


  • Alias: Cerebral AR arteriopathy-subcortical infacts-leukoencephalopathy
  • Alias: Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, AR
  • Alias: Cerebral arteriopathy, AD, with subcortical infarcts + leukoencephalopathy, type 2
  • Alias: HTRA1 disorder; Cerebrovascular disease with thin skin, alopecia, disc disease
  • Alias: Strokes, dementia, cognitive + psychiatric disturbance; Alopecia; Degenerative disc disease
  • CARASIL syndrome; Maeda syndrome (HTRA1)
Heredity, heredity patterns etc.
  • AD
  • AR
ICD10 Code

Bioinformatics and clinical interpretation

No text defined