Ectopia lentis or lens dislocation is a clinical sign that can appear in isolation, as part of ocular diseases with a more complex phenotype, or as a clinical finding within systemic entities with ocular involvement.
The Ectopia lentis panel has also included entities to consider during the differential diagnosis of those that commonly cause this lens condition.
1–15/10,000 newborns.
Ectopia lentis is a rare objective finding among genetic diseases. Therefore, lacking a clinical explanation that justifies this ocular phenomenon and with a suspected genetic etiology, the Ectopia lentis service may be an appropriate approach to all genetic diseases associated with this clinical sign.
Carrying out the Ectopia lentis panel can help complete the diagnostic process when genetic origin is considered a possibility. A genetic diagnosis can also prevent or early detect ocular or systemic anomalies.
The detection of ectopia lentis in a patient without a clinically evident explanation, as well as the presence of associated ocular malformations or accompanying systemic alterations, would allow the service to be recommended.
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
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Turnaround time (TAT):
Ref. S-202313116
Virtual panel based on whole exome sequencing, aimed at the simultaneous analysis of all the genes related to ectopia lentis, as well as entities typically considered in the differential diagnosis of the former.
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.
Ectopia lentis
