Congenital disorders of cranial innervation are a group of disorders resulting from alterations in the development of the nervous system at the brainstem or cranial level. In the majority, there is a known genetic cause. Several of them are associated with various systemic alterations.
The main congenital disorders due to cranial denervation are:
The genetic cause is behind a large number of patients affected by one of these clinical signs, and it is therefore highly advisable to complete the diagnostic process by requesting this service.
The diagnosis of one of the entities included in this panel makes it advisable to request this service.
1) Download & fill out
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2) Sample collection
See sample types in the guidelines
3) Pack the sample
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4) Send the sample & the request
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5) Result: the report
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Turnaround time (TAT):
Ref. S-202313126
Virtual panel based on whole exome sequencing, aimed at the simultaneous analysis of all genes with high, moderate, and low evidence related to congenital disorders of cranial innervation based on current literature.
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.
