Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues

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Ciliopathies Gene Panel

PD Dr. med. Julia Höfele

Cilia are essential cell organelles which in the kidney serve as mechano-, chemo-, and osmotic sensors. They play a significant role in several signal transduction pathways, which are important for an adequate organ development, the maintenance of tissue homeostasis and in basic developmental processes. A lot of different proteins and therefore genes are involved in the construction of cilia, which explains the clinical and genetic heterogeneity of the listed disease in the following table. A molecular genetic analysis using next generation sequencing can facilitate disease classification.

Ziliopathien

* single gene analysis by Sanger sequencing can be requested

Method

All coding exons and their flanking intronic sequences from the genes in the ciliopathies gene panel are analyzed either by Sanger sequencing or by next generation sequencing (NGS).