NGS Ciliopathies

Ciliopathien/Ziliopathien

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

Ziliopathien (gesamt) Gen-Panel (244 Gene)

ACVR2B, ADGRV1, AGPAT2, AHI1, AIPL1, ALMS1, ALMS1 , ANKS6, ARL13B, ARL6, ARMC4, ARMC9, ATXN10, B9D1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, C11orf70, C21orf2, C21orf59, C2CD3, C2orf71, C5orf42, C8orf37, CABP4, CC2D2A, CCDC103, CCDC114, CCDC151, CCDC28B, CCDC39, CCDC40, CCDC65, CCNO, CDH23, CENPF, CEP104, CEP120, CEP164, CEP290, CEP41, CEP55, CEP83, CFAP43, CFAP44, CFAP46, CFAP53, CFAP54, CFC1, CFC1 , CFTR, CITED2, CLRN1, CRB1, CRB2, CRELD1, CRELD1 , CRX, CSPP1, DCDC2, DDX59, DHCR7, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH1, DNAH11, DNAH5, DNAH6, DNAH8, DNAH9, DNAI1, DNAI2, DNAJB13, DNAL1, DNHD1, DRC1, DYNC2H1, DYNC2LI1, DYX1C1, EVC, EVC2, EXOC3L2, EXOC8, FAM58A, FOXH1, GAS2L2, GAS8, GDF1, GDF6, GLI2, GLI3, GLIS2, GUCY2D, HEATR2, HNF1B, HYDIN, HYLS1, ICK, IFT122, IFT140, IFT172, IFT20, IFT22, IFT27, IFT43, IFT46, IFT52, IFT57, IFT74, IFT80, IFT81, IFT88, IMPDH1, INPP5E, INVS, IQCB1, KCNJ13, KIAA0556, KIAA0586, KIAA0753, KIF14, KIF7, LBR, LCA5, LEFTY2, LEFTY2 , LRAT, LRRC56, LRRC6, LZTFL1, MAPKBP1, MCIDAS, MKKS, MKS1, MUC1, MYO7A, NEK1, NEK8, NFKB1, NFKB2, NKX2-5, NME8, NMNAT1, NODAL, NPHP1, NPHP3, NPHP4, OCRL, OFD1, ORMDL3, OTX2, PCDH15, PDE6D, PIBF1, PIH1D3, PIK3CD, PIK3R1, PKD1, PKD2, PKHD1, PMM2, PNPLA6, POC1A, POC1B, PRKCSH, PRPH2, RAG1, RAG2, RD3, RDH12, ROM1, RPE65, RPGR, RPGRIP1, RPGRIP1L, RSPH1, RSPH3, RSPH4A, RSPH9, SBDS, SCLT1, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SEC63, SPAG1, SPAG17, SPATA7, STK36, SUFU, TAPT1, TBC1D32, TCTEX1D2, TCTN1, TCTN2, TCTN3, TMEM107, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TOPORS, TRAF3IP1, TRIM32, TSC1, TSC2, TTBK2, TTC21B, TTC25, TTC8, TULP1, TXNDC15, UMOD, USH1C, USH1G, USH2A, USP9X, VHL, VPS13B, WDPCP, WDR19, WDR34, WDR35, WDR60, WDR63, WHRN, XPNPEP3, ZIC3, ZMYND10, ZNF4, ZNF423 und ZSWIM6.



  • How to order
    Order Form

    Place your order by email molekulargenetik@praenatal-medizin.de

  • Turnaround time
    2-3 weeks

  • Contact
    Priv.-Doz. Dr. med. M. Shoukier
    Dr. rer. nat. C. Bagowski molekulargenetik@praenatal-medizin.de

    Phone: +49 89 130744-0
    Fax: +49 89 130744-99

  • Ship the sample to our laboratory
    Material: DNA, Blood, Dried blood spot, Buccal swab, Chorionic villi (CVS), Amniotic fluid

    Shipping address:
    Pränatal-Medizin München
    Lachnerstr. 20
    80639 München
    Germany


  • Order specimen kit with sample tube, requisition form and prepaid return envelope by email.