Ciliopathies are a group of genetic diseases involving defects in cilia, small structures on the surface of cells. Cilia play several crucial roles in the body, including cell locomotion, fluid movement such as in the respiratory tract and genitourinary tract, and signal transduction in sensory cells. Ciliopathies can be considered a genetically heterogeneous group of disorders caused by mutations in genes that produce proteins located in the cilio-centrosome complex. Phenotypes due to the altered proteins range from cystic kidney disease and blindness to neurological phenotypes, obesity and diabetes. A common feature of monogenic ciliopathies such as polycystic kidney disease, nephronophthisis, Joubert's syndrome, Meckel's syndrome and Bardet-Biedl syndrome is that disease-relevant gene products are expressed in the primary cilia or centrosomes.

146 genes

1/13.000 - 1/1.000.000

Multigenic panel aimed at the molecular diagnosis of cilipathies including: primary ciliary dyskinesia, Joubert syndrome, Bardet-Biedl syndrome, Meckel syndrome, Senior Loken syndrome, nephronophthisis, Jeune syndrome and related disorders.

Method: NGS sequencing, determination of SNVs (Single Nucleotide Variants), small insertions and deletions and CNVs (Copy Number Variants).

Limits: The test is unable to determine the presence of underrepresented somatic events, balanced chromosomal rearrangements, nucleotide expansion events of repeat regions, CNVs <3 contiguous exons. <3 esoni contigui.

Some genes may have low coverage areas, where necessary or upon specific request, within the limits of methodological limitations, sequencing can be completed with alternative methods (Sanger).

Some genes may be duplicated in the genome (pseudogenes), which may invalidate the analysis. 

  Endocrinology/Metabolic Diseases

  Gastroenterology

  Nephrology

  Neurology Snc

  Pneumology

  Skeletal system