This website uses cookies so that we can provide you with the best user experience possible. Cookie information is stored in your browser and performs functions such as recognising you when you return to our website and helping our team to understand which sections of the website you find most interesting and useful.
Vascular leukoencephalopathies panel [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 and diffuse white matter lesions and subcortical infarcts on neuroimaging, with typical involvement of the anterior temporal lobes.
Request study
Informed consent
Steps to follow
Ask for information
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 Mon–Thur: 8am – 5pm
5. Result: the report
Via: Client Site HIC / Client Site Imegen / Certified email
Solicita información de
Vascular leukoencephalopathies panel
Turnaround time (TAT): 6 weeks
Ref. S-202008616
Vascular leukoencephalopathies panel: 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.
Phenotypes
- 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.