Senior-Løken syndrome (SLS) is a rare autosomal recessive disease characterized by retinal dystrophy (retinitis pigmentosa or Leber congenital amaurosis) and nephronophthisis. Pathogenic variants associated with this syndrome affect genes that encode primary cilia proteins, which play a major role during embryonic development. It shows a high phenotypic variability and genetic heterogeneity.
Incidence: 1/1,000,000
Identifying genetic variants causing Senior-Løken syndrome allows for a precise molecular diagnosis that provides the information necessary to perform genetic counseling, direct patient management, and offers predictive value to carrier patients.
This panel is indicated when there is suspicion of Senior-Løken syndrome that includes the following clinical characteristics:
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
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Turnaround time (TAT): 25 days
Ref. S-202313097
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.
