Megalencephaly is a rare malformation of the central nervous system characterized by a true enlargement of the brain parenchyma accompanied by an elevated head circumference measurement. It is evident at birth or develops during the first years of life. Megalencephaly may be accompanied by intellectual disability, epileptic seizures or other neurological abnormalities.
Unknown
The benefits derived from a genetic diagnosis in this context are especially aimed at closing the diagnosis and family genetic counseling.
Service indicated when megalencephaly is confirmed in an imaging test.
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
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Turnaround time (TAT): 25 days
Ref. S-202314044
Virtual panel based on whole exome sequencing, aimed at the analysis of all genes of moderate, high and low evidence related to megalencephaly, as well as those associated with differential diagnosis entities.
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.
