It is a rare defect of embryonic development characterized by the presence of linear grooves in the brain, which contain cerebrospinal fluid and are lined by abnormal gray matter and extend from the lateral ventricles to the pial surface of the cortex. Schizencephaly can affect one or both cerebral hemispheres and can lead to a variety of neurological symptoms such as epilepsy, motor deficits, and psychomotor retardation.
Schizencephaly: 1/65,000 (ORPHA:799).
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
"*" indicates required fields
Turnaround time (TAT): 25 days
Ref. S-202314046
Virtual panel based on whole exome sequencing, aimed at the simultaneous analysis of all genes related to diseases, syndromic or not, that may cause schizencephaly.
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.
