Genetic analyses for ciliopathies

Ciliopathies are heterogeneous diseases of genetic origin, caused by disorders in the structure or function of (mostly primary) cilia. Cilia are vital cell organelles that play a crucial role in organ development, tissue homoeostasis and fundamental development processes. Depending on the exact defect of the proteins involved in ciliary formation and function, a variety of genetic disorders are observed, often showing strong clinical overlaps. In addition, pathogenic variants in the same gene may result in different phenotypes (pleiotropy).
Molecular genetic testing is essential to achieve an accurate diagnosis.

A Alagille syndrome
  Alström syndrome
B Bardet-Biedl syndrome (BBS)
  Birt-Hogg-Dubé syndrome
C Cystic kidney disease 
E Ellis-van-Creveld syndrome (EVC)
H Heterotaxy
J Jeune syndrome
  Joubert syndrome
M Mainzer-Saldino syndrome
  Meckel-Gruber syndrome
N Nephronophthisis (NPHP)
O Orofaciodigital syndrome (OFD)
P Peroxisome biogenesis disorders
  Polycystic kidney disease, autosomal dominant (ADPKD)
  Polycystic kidney disease, autosomal recessive (ARPKD)
  Primary ciliary dyskinesia (PCD)
S Senior-Loken syndrome
  Sensenbrenner syndrome
T Tuberous sclerosis (TSC)
V VACTERL association
  Von Hippel-Lindau disease (VHL)

Our service portfolio for ciliopathies can be downloaded here.

You can find our request form for molecular genetic diagnostics here.

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