General service of entities of genetic origin that associate glaucoma at any time in its evolution, regardless of the type of glaucoma and the ultimate causes that lead to its development in a specific disease.
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Global panel recommended when the presence of ocular glaucoma is evident, but it has not been possible to reach a solid suspected diagnosis. This service, therefore, allows for an early diagnosis when the clinic has not yet allowed the specialist to draw definitive conclusions.
In the presence of glaucoma in which a genetic origin is suspected, either due to the age of onset, the associated ocular and/or extraocular manifestations, or the family history without having been able to establish a probable clinical diagnosis, this service would be indicated.
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):
Ref. S-202313122
Virtual panel based on whole exome sequencing, aimed at the simultaneous analysis of all genes with high, moderate, and low evidence related to the appearance of glaucoma 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.
