Ciliopathies

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Ciliopathies result from dysfunction of cilia, a cell organelle that plays a role in many signaling pathways. Those pathways are important for organ development, maintenance of tissue homeostasis and fundamental developmental processes.

Numerous proteins and thus genes are involved in the construction of cilia, which explains the clinical and genetic heterogeneity and overlapping phenotypes of the various disorders.

Many organs can be affected in ciliopathies, common features are cystic liver and/or kidney disease, blindness, neural tube defects, brain anomalies and intellectual disability, skeletal abnormalities ranging from polydactyly to abnormally short ribs and limbs, ectodermal defects, obesity, situs inversus, infertility, and recurrent respiratory tract infections.

Early identification of individuals at risk can help establish the right clinical management plan.

We offer comprehensive panel for ciliopathies. The test can offer a molecular genetic diagnosis of a ciliopathies that is observed or predicted in your child or a family member.

ACVR2B, AHI1, ALMS1, ANKS6, ARL13B, ARL6, ARMC4, B9D1, B9D2, BBIP1, BBS1,

BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, C21ORF59, C2CD3, C5orf42,

C8ORF37, CC2D2A, CCDC103, CCDC114, CCDC151, CCDC28B, CCDC39, CCDC40,

CCDC65, CCNO, CELSR2, CEP120, CEP164, CEP19, CEP290, CEP41, CEP78,

CEP83, CFAP53, CLUAP1, CRELD1, CSPP1, DCDC2, DDX59, DNAAF1, DNAAF2,

DNAAF3, DNAAF5, DNAH11, DNAH5, DNAH6, DNAH8, DNAI1, DNAI2, DNAJB13,

DNAL1, DRC1, DYNC2H1, DYX1C1, EVC, EVC2, FUZ, GAS8, GDF1, GLIS2, HYDIN,

IFT122, IFT140, IFT172, IFT27, IFT43, IFT74, IFT80, INPP5E, INVS, IQCB1,

KIAA0586, KIAA0753, KIF14, KIF7, LAMA1, LBR, LRRC6, LZTFL1, MAPKBP1,

MCIDAS, MKKS, MKS1, NEK1, NEK4, NEK8, NME8, NODAL, NPHP1, NPHP3,

NPHP4, OFD1, PDE6D, PIEZO2, PIH1D3, PKD1, PKD2, PKHD1, RPGR, RPGRIP1L,

RSPH1, RSPH3, RSPH4A, RSPH9, SCLT1, SDCCAG8, SLC41A1, SPAG1, STK36,

TBC1D32, TCTN1, TCTN2, TCTN3, TMEM107, TMEM138, TMEM216, TMEM231,

TMEM237, TMEM67, TRAF3IP1, TRIM32, TTC21B, TTC25, TTC8, WDPCP, WDR19,

WDR34, WDR35, WDR60, XPNPEP3, ZIC3, ZMYND10, ZNF423