SENIOR-LØKEN SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 11 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Senior-Løken Syndrome panel is designed for the genetic diagnosis of autosomal recessive ciliopathies that combine nephronophthisis with retinal dystrophy, a significant cause of renal failure and congenital or progressive blindness in childhood. These diseases result from alterations in genes involved in the structure and function of the primary cilium, whose dysfunction affects both the renal tubules and the photoreceptors of the retina. The study includes genes associated with the different forms of the syndrome, such as NPHP1, NPHP3, NPHP4, IQCB1, CEP290, CEP164, SDCCAG8, WDR19, TRAF3IP1, and INVS. The detection of pathogenic variants allows for confirmation of the diagnosis, differentiation from other related ciliopathies such as Joubert or Meckel-Gruber syndromes, prognosis, and the provision of genetic counseling for families. Key genes analyzed: NPHP1, NPHP3, NPHP4, IQCB1, CEP290, CEP164, SDCCAG8, WDR19, TRAF3IP1, and INVS. You can consult the complete list of genes analyzed by contacting Genotica.
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