Nystagmus is the rhythmic, involuntary oscillation of one or both eyes. The main characteristics defining a nystagmus are direction, amplitude, frequency, and intensity. Another aspect to consider is the age of onset since congenital or infantile nystagmus appears before 6 months old.
Estimated at 2/10,000 newborns.
The congenital nystagmus service includes all entities of genetic cause related to the appearance of nystagmus in the first months of life. Considering the high number of entities with genetic origin and the fact that it is often impossible to differentiate those with a genetic etiology from those who do not, it is recommended to assess this service.
When infantile nystagmus is detected, and a genetic cause cannot be discarded, this service would be indicated.
1) Download & fill out
Please cover as many fields as possible in both documents
2) Sample collection
See sample types in the guidelines
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-202313127
Updated (dd/mm/yy): 08/10/2025
Virtual panel based on whole exome sequencing, aimed at the simultaneous analysis of all genes with high, moderate, and low evidence related to congenital nystagmus based on current literature and including both syndromic and non-syndromic forms.
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.
Infantile or congenital nystagmus
