Vascular leukoencephalopathy [12 genes]

Some hereditary leukoencephalopathies are caused by vascular diseases. These diseases include cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), which is caused by heterozygous pathogenic variants in the NOTCH3 gene and characterized by:

  • Episodes of recurrent ischemic stroke associated with cognitive decline that progresses to dementia
  • Migraine with aura
  • Psychiatric disorders
  • Diffuse white matter lesions
  • Subcortical infarcts on neuroimaging, with typical involvement of the anterior temporal lobes.

  • APP, CST3, ITM2B, GSN: Hereditary cerebral amyloid angiopathy
  • NOTCH3: CADASIL
  • HTRA1: CARASIL
  • COL4A2: Cerebral small vessel disease
  • GLA: Fabry disease
  • CTSA: Galactosialidosis
  • CTC1: Cerebroretinal microangiopathy with calcifications and cysts (Coats plus syndrome)
  • COL4A1: Autosomal dominant pontine microangiopathy and leukoencephalopathy (PADMAL)
  • COL4A1: COL4A1-related familial vascular leukoencephalopathy
  • COL4A1: Cerebral small vessel disease
  • TREX1: Retinal vasculopathy with cerebral leukodystrophy and systemic manifestations.

Request study Informed consent
Steps to follow
Steps to follow

How to order

1. Download & fill out

Please cover as many fields as possible in both documents

2. Sample collection

Three sample types: saliva, peripheral blood or genomic DNA

3. Pack the sample

Please pack the sample in a way to prevent leakage

4. Send the sample & the request

Please schedule the delivery for Monday–Friday: 8am – 5pm

5. Result: the report

Via: e-mail and/or through the customer portal

Ask for information
Solicita información de

Vascular leukoencephalopathy

"*" indicates required fields

Consentimiento*
This field is for validation purposes and should be left unchanged.
Technique: Exome

Turnaround time (TAT): 25 days

Ref. S-202008616

Vascular leukoencephalopathy: View panel
  • APP
  • COL4A1
  • COL4A2
  • CST3
  • CTC1
  • CTSA
  • GLA
  • GSN
  • HTRA1
  • ITM2B
  • NOTCH3
  • TREX1

Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.

Related panels
Leukodystrophies and other hereditary leukoencephalopathies [142 genes]