The crystalline lens disorders panel includes the genes corresponding to pathologies that associate any of the alterations in the size and/or shape of the lens of genetic origin, specifically congenital aphakia, microspherophakia, microphakia, lenticone, lentiglobus, and lens coloboma.
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This panel is recommended when you suspect any disorders included. It addresses the analysis of genes involved in this type of disorders, whether they appear in isolation, or whether they are accompanied by other ocular phenotypes.
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-202313117
Virtual panel based on whole exome sequencing, aimed at the simultaneous analysis of all genes related to the phenotypes indicated above.
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.
