Zugehörige Erkrankungen:
Primäre Ziliendyskinesie
Polyzystische Nierenerkrankung (PKHD1, PKD1, PKD2 Einzelgendiagnostik)
Nephronophthise
Senior-Loken-Syndrom
Lebersche kongenitale Amaurose
Meckel-Gruber-Syndrom
Joubert Syndrom
Bardet- Biedl-Syndrom
Alstrom-Syndrom (Einzelgendiagnostik)
McKusick-Kaufman-Syndrom (Einzelgendiagnostik)
Ellis van Creveld-Syndrom
Kurzrippen Polydaktylie Syndrome (Short-rib-polydactyly Syndroms (SRPS))
Heterotaxie
Primäre Ziliopathie Gen-Panel (138 Gene)
ACVR2B, ADGRV1, AGPAT2, AHI1, AIPL1, ARL13B, ARL6, ARMC4, B9D1, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, C21orf59, C2orf71, C5orf42, CC2D2A, CCDC103, CCDC114, CCDC151, CCDC28B, CCDC39, CCDC40, CCDC65, CCNO, CDH23, CENPF, CEP164, CEP290, CEP41, CEP55, CFTR, CLRN1, CRB1, CRELD1, CRX, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH1, DNAH11, DNAH5, DNAH8, DNAI1, DNAI2, DNAL1, DRC1, DYNC2H1, EVC, EVC2, FOXH1, GAS2L2, GAS8, GDF1, GLIS2, GUCY2D, HYDIN, HYLS1, IFT43, IFT80, IMPDH1, INVS, IQCB1, KCNJ13, KIF7, LCA5, LEFTY2, LRAT, LRRC56, LRRC6, LZTFL1, MCIDAS, MKKS, MKS1, MYO7A, NEK1, NEK8, NKX2-5, NME8, NODAL, NPHP1, NPHP3, NPHP4, OFD1, PCDH15, PIH1D3, PKD2, PKHD1, RD3, RDH12, RPE65, RPGR, RPGRIP1, RPGRIP1L, RSPH1, RSPH3, RSPH4A, RSPH9, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SPAG1, SPATA7, TCTN1, TCTN2, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TOPORS, TRIM32, TSC1, TSC2, TTC21B, TTC8, TULP1, UMOD, USH1C, USH1G, USH2A, VHL, WDPCP, WDR19, WDR35, WHRN, XPNPEP3, ZIC3, ZMYND10, ZNF423
Nephronophthise Gen-Panel (11 Gene)
NPHP1, NPHP3, NPHP4, CEP290, GLIS2, INVS, IQCB1, RPGRIP1L, NEK8, SDCCAG8, TTC21B
Senior-Loken-Syndrom Gen-Panel (10 Gene)
CEP164, CEP290, INVS, IQCB1, NPHP1, NPHP3, NPHP4, SDCCAG8, TRAF3IP1 und WDR19.
Lebersche kongenitale Amaurose Gen-Panel (22 Gene)
AIPL1, CABP4, CEP290, CRB1, CRX, GDF6, GUCY2D, IMPDH1, IQCB1, KCNJ13, LCA5, LRAT, NMNAT1, OTX2, PRPH2, RD3, RDH12, ROM1, RPE65, RPGRIP1, SPATA7, TULP1
Meckel-Gruber-Syndrom Gen-Panel (9 Gene)
B9D1, B9D2, CC2D2A, CEP290, MKS1, NPHP3, RPGRIP1L, TMEM216, TMEM67
Joubert Syndrom Gen-Panel (32 Gene)
AHI1, ARL13B, ARMC9, B9D1, C2CD3, C5ORF42, CC2D2A, CEP104, CEP120, CEP290, CEP41, CSPP1, INPP5E, KIAA0556, KIAA0586, KIF7, MKS1, NPHP1, OFD1, PDE6D, RPGRIP1L, SUFU, TCTN1, TCTN2, TCTN3, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TTC21B und ZNF423.
Bardet- Biedl-Syndrom Gen-Panel (23 Gene)
ALMS1, ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, C8ORF37, CCDC28B, CEP290, IFT172, LZTFL1, MKKS, MKS1, NPHP1, SDCCAG8, TRIM32, TTC8 und WDPCP
Ellis van Creveld-Syndrom Gen-Panel (2 Gene)
EVC1, EVC2
Heterotaxie Gen-Panel (22 Gene)
ACVR2B, CCDC39, CCDC40, CFC1 , CITED2, CRELD1 , DNAAF1, DNAAF2, DNAAF3, DNAH11, DNAH5, DNAI1, DNAI2, DNAL1, FOXH1, GDF1, INVS, LEFTY2, NKX2-5, NME8, NODAL, ZIC3
Nierenerkrankungen und Ciliopathien Gen-Panel (513 Gene) Gen-Panel (513 Gene)
ACE, ACTA2, ACTG2, ACTN4, ACVR2B, ADAMTS13, COQ8B, ADCY10, ADCY3, ADGRV1, AGK, AGPAT2, AGT, AGTR1, AGXT, AHI1, AIPL1, ALDH1A2, ALG1, ALMS1, ALPL, AMN, ANKS6, ANLN, ANOS1, AP2S1, APOE, APOL1, APRT, AQP2, ARHGAP24, ARHGDIA, ARL13B, ARL6, ARMC4, ARMC9, ATP6V0A4, ATP6V1B1, ATXN10, AVP, AVPR2, B9D1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCS1L, BICC1, BMP4, BMP7, BNC2, BSND, C11ORF70, C1QA, C1QB, C1QC, C21ORF2, C21ORF59, C2CD3, C2ORF71, C3, C5ORF42, C8ORF37, CA2, CABP4, CASR, CC2D2A, CCDC103, CCDC114, CCDC151, CCDC28B, CCDC39, CCDC40, CCDC65, CCNO, CD151, CD2AP, CD46, CDC5L, CDH23, CELSR2, CENPF, CEP104, CEP120, CEP164, CEP290, CEP41, CEP55, CEP83, CFAP43, CFAP44, CFAP46, CFAP53, CFAP54, CFB, CFC1, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, CFTR, CHD1L, CHD7, CHRM3, CIB2, CITED2, CLCN5, CLCNKA, CLCNKB, CLDN16, CLDN19, CLRN1, CLU, CNNM2, CNNM4, COL4A1, COL4A3, COL4A4, COL4A5, COL4A6, COQ2, COQ6, COX10, CRB1, CRB2, CRELD1, CRX, CSPP1, CTNS, CUBN, CUL3, CUL4B, CYP11B2, CYP24A1, CYP27B1, CYP2R1, DACH1, DACT1, DCDC2, DDX59, WHRN, DGKE, DHCR7, DHFR, DLG3, DMP1, DNAAF1, DNAAF2, DNAAF3, DNAH1, DNAH11, DNAH5, DNAH6, DNAH8, DNAH9, DNAI1, DNAI2, DNAJB13, DNAL1, DNHD1, DRC1, DSTYK, DYNC2H1, DYNC2LI1, DYRK1B, DNAAF4, DZIP1L, E2F3, EGF, EMP2, ENPP1, ETFA, EVC, EVC2, EXOC3L2, EXOC8, EYA1, FAH, FAM111A, FAM20A, FAM58A, FAN1, FANCB, FAT1, FBXW7, FGF20, FGF23, FIBP, FN1, FOXC1, FOXC2, FOXH1, FRAS1, FREM1, FREM2, FXYD2, GANAB, GAS2L2, GAS8, GATA3, GDF1, GDF6, GDNF, GIF, GLA, GLI2, GLI3, GLIS2, GNA11, GNAS, GPHN, GREM1, GRHPR, GRIP1, GUCY2D, HAAO, HCN3, DNAAF5, HNF1B, HNF4A, HOGA1, HPRT1, HPSE2, HSD11B2, HYDIN, HYLS1, ICK, IFT122, IFT140, IFT172, IFT20, IFT22, IFT27, IFT43, IFT46, IFT52, IFT57, IFT74, IFT80, IFT81, IFT88, IMPDH1, INF2, INPP5E, INSR, INVS, IQCB1, ITGA3, ITGA8, ITGB4, JAG1, KANK1, KANK2, KANK4, KCNA1, KCNJ1, KCNJ10, KCNJ13, KCNJ5, KIAA0556, KIAA0586, KIAA0753, KIF14, KIF7, KIT, KL, KLHL3, KSR2, KYNU, LAMA5, LAMB2, LBR, LCA5, LEFTY2, LEP, LEPR, LMNA, LMX1B, LRAT, LRIG2, LRP5, LRRC56, LRRC6, LZTFL1, MAFB, MAGED2, MAGEL2, MAGI2, MAGT1, MAPKBP1, MC3R, MC4R, MCIDAS, MKKS, MKS1, MMACHC, MMADHC, MOCOS, MOCS1, MTR, MTRR, MUC1, MUT, MYH11, MYH9, MYO1E, MYO7A, NEK1, NEK8, NFKB1, NFKB2, NIPA2, NKX2-5, NME8, NMNAT1, NODAL, NOTCH2, NPHP1, NPHP3, NPHP4, NPHS1, NPHS2, NR0B2, NR3C2, NTRK2, NUP107, NUP205, NUP93, NXF5, OCRL, OFD1, ORMDL3, OSR1, OTX2, PAX2, PBX1, PCBD1, PCDH15, PCSK1, PDE6D, PDPR, PDSS2, PDZD7, PHEX, PHF6, PIBF1, PIGA, PIH1D3, PIK3CD, PIK3R1, PKD1, PKD2, PKHD1, PLCE1, PLG, PMM2, PNPLA6, POC1A, POC1B, POMC, PPARG, PRKCSH, PRPH2, PTPRO, PXDN, RAG1, RAG2, RD3, RDH12, REN, RET, ROBO2, ROM1, RPE65, RPGR, RPGRIP1, RPGRIP1L, RRM2B, RSPH1, RSPH3, RSPH4A, RSPH9, SALL1, SARS2, SBDS, SCARB2, SCLT1, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SEC61A1, SEC63, SGPL1, SHH, SIM1, SIX1, SIX2, SIX5, SLC12A1, SLC12A3, SLC19A2, SLC19A3, SLC1A1, SLC22A12, SLC26A1, SLC2A2, SLC2A9, SLC34A1, SLC34A3, SLC36A2, SLC3A1, SLC41A1, SLC4A1, SLC4A4, SLC6A19, SLC6A20, SLC7A7, SLC7A9, SLC9A3, SLC9A3R1, SLIT2, SMARCA4, SMARCAL1, SOX17, SPAG1, SPAG17, SPATA7, SPRY1, SRGAP1, STK36, STRADA, SUFU, SYNPO, TAPT1, TBC1D1, TBC1D32, TBX18, TCTEX1D2, TCTN1, TCTN2, TCTN3, TFAP2A, THBD, TMEM107, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TNS3, TNXB, TOPORS, TRAF3IP1, TRAP1, TRAPPC3, TRIM32, TRPC6, TRPM6, TSC1, TSC2, TSHZ3, TTBK2, TTC21B, TTC25, TTC8, TULP1, TXNDC15, UCP3, UMOD, UPF3B, UPK2, UPK3A, USH1C, USH1G, USH2A, USP9X, VDR, VHL, VIPAS39, VPS13B, VPS33B, WDPCP, WDR19, WDR34, WDR35, WDR60, WDR63, WDR73, WFS1, WNK1, WNK4, WNT4, WNT5A, WT1, XDH, XPNPEP3, XPO5, ZIC3, ZMPSTE24, ZMYND10, ZNF365, ZNF423, ZSWIM6.
