Autism is a neurodevelopmental disorder that begins in early childhood. It is characterized by poor social interaction and communication accompanied by restricted and repetitive behaviors. The presentation is very heterogeneous between individuals, and even during the clinical course of the same individual. The diagnosis is clinical based on clinical observation and the patient’s history.
The disease affects approximately 1 in 60 children.
This service collects the genes with high and moderate evidence related to autism to date. Therefore, in those cases in which a clinical diagnosis has been reached, it would be advisable to study the genes best related to the phenotype of interest, in order to assess a possible genetic origin of the condition.
The benefits derived from a genetic diagnosis in this context are especially aimed at family genetic counseling.
Service indicated when a patient has been clinically diagnosed with an autism spectrum disorder, in order to assess a possible genetic origin of the disease.
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-202110062
Virtual panel based on whole exome sequencing, aimed at the analysis of all genes of moderate and high evidence related to autism in reputed databases.
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.
Autism spectrum disorder.
