Lissencephaly consists of a smooth brain surface and poor development of cerebral gyri and sulci. This term encompasses a spectrum of malformations of the brain surface that range from complete agyria to heterotopia in subcortical bands.
This service brings together syndromic or non-syndromic entities that associate lissencephaly in their phenotype. Therefore, whether the patient has isolated lissencephaly or not, this may be an appropriate panel to begin the study.
The benefits derived from a genetic diagnosis in this context are especially aimed at closing the diagnosis and family genetic counseling.
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-202008617
Virtual panel based on whole exome sequencing, aimed at the simultaneous analysis of all genes with high, moderate or low evidence related to diseases, syndromic or not, that may cause lissencephaly. In syndromic patients, if a diagnosis is not reached using this panel, it is recommended to extend the study to a whole exome directed by phenotype (based on codes from the HPO database) when the global evaluation of the patient has been completed, therefore, after the multidisciplinary assessment of the patient.
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.
