CILIOPATHIES GLOBAL: CLINICAL EXOME PANEL (Sec. & CNVs) – 273 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Global Ciliopathies Panel analyzes 273 genes involved in a wide spectrum of inherited diseases caused by defects in the structure or function of primary cilia, organelles essential for cell signaling and embryonic development. This panel covers multisystem ciliopathic syndromes such as Bardet-Biedl syndrome, Joubert syndrome, Meckel-Gruber syndrome, nephronophthisis, Alström syndrome, primary ciliary dyskinesia, retinal dystrophies, and ciliopathic bone dysplasias, among others. Next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs allows for the evaluation of genes involved in ciliary biogenesis, intraflagellar transport, and signaling of key pathways such as Hedgehog, Wnt, and Notch. Some of the genes included in this panel are BBS1, CEP290, IFT140, TMEM67, OFD1, NPHP1, ALMS1, ARL13B, and DNAAF1, among others. You can consult the complete list of genes by contacting Genotica.
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