Heterotopias are disorders of neuronal migration of the gray matter. They are accumulations of gray matter in abnormal locations as a result of abnormal radial migration, commonly found in the subependymal or periventricular region. Patients with heterotopias almost always develop seizures. Lissencephaly, schizencephaly, agenesis of the corpus callosum, and holoprosencephaly are known to be associated with heterotopias.
Unknown overall incidence.
The service includes entities that associate heterotopia in isolation or as part of a syndromic phenotype. Thus, in a patient in whom heterotopia is evident by imaging testing, this panel can be a good approximation, as it includes syndromic and non-syndromic forms as well as genes involved in microdeletion – microduplication syndromes that can also associate heterotopia and that it could be detected by exome.
The benefits derived from a genetic diagnosis in this context can range from family genetic counseling, typical of genetic studies in general, to the prevention of associated comorbidities in syndromic patients.
Service indicated when, during the diagnostic approach, a patient identifies the presence of heterotopia in an imaging test, regardless of the additional manifestations that may be associated.
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-202314047
Virtual panel based on whole exome sequencing, aimed at the simultaneous analysis of all genes related to diseases, syndromic or not, that may cause heterotopia. 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.
