Senior-Løken syndrome [15 genes]

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:

  • Retinal dystrophy (retinitis pigmentosa or Leber congenital amaurosis)
  • Nephronophthisis

Request study Informed consent
Steps to follow
Steps to follow
Click here to see the Guidelines for the collection and transport of biological samples

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

Ask for information
Solicita información de

Senior-Løken syndrome

"*" indicates required fields

This field is for validation purposes and should be left unchanged.
Consentimiento*
Technique: Exome

Turnaround time (TAT): 25 days

Ref. S-202313097

Updated (dd/mm/yy): 08/10/2025

Senior-Løken syndrome: View panel
  • CEP164
  • CEP290
  • GLIS2
  • INVS
  • IQCB1
  • NEK8
  • NPHP1
  • NPHP3
  • NPHP4
  • RPGRIP1L
  • SDCCAG8
  • TMEM67
  • TRAF3IP1
  • WDR19
  • SCLT1

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.

References

  1. Ronquillo CC et al. Senior–Løken syndrome: A syndromic form of retinal dystrophy associated with nephronophthisis. Vision Res 2012 Dec 15;75:88-97. doi: 10.1016/j.visres.2012.07.003.Epub 2012 Jul 20.
  2. Tsang SH et al. Ciliopathy: Senior-Løken Syndrome. Adv Exp Med Biol. 2018;1085:175-178. doi: 10.1007/978-3-319-95046-4_34.
  3. Mochizuki T et al. New Insights into Cystic Kidney Diseases. Contrib Nephrol. Basel, Karger, 2018, vol 195, pp 31–41 ( DOI: 10.1159/000486932 ).

Basic information about cookies

Welcome to the basic information about cookies on the website under the responsibility of the entity:

HEALTH IN CODE SL

A cookie is a small information file that is stored in your computer, smartphone or tablet every time you visit our website. Some cookies are ours (we will call them our own cookies) and others belong to external companies that provide services for our website.

Cookies can be of various types: technical cookies are necessary for our website to function; they do not require your permission and are the only ones we have enabled by default.

The other cookies are used to improve our website, to personalise it based on your preferences, or to be able to show you advertising tailored to your searches, preferences, and personal interests. You can accept all these cookies by clicking on the ACCEPT button or REFUSE button below.

For more information, please consult the COOKIES POLICY on our website.