Several metabolic diseases are associated with corneal disease. Most of them are storage diseases, the main diseases involved being the following:
In the Metabolic keratopathies service, the main metabolic entities that cause corneal pathology have been put together. In the presence of corneal alterations without being able to define the suspicion, it is recommended to request this genetic study as a support during the diagnostic process.
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-202313120
Virtual panel based on whole exome sequencing, aimed at the simultaneous analysis of all genes causing metabolic keratopathies 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.
