NGS floppy infant

Zugehörige Erkrankungen:
Primäre Ciliendyskinesie
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 Ziliendyskinesie Gen-Panel (9 Gene)
DNAI1, DNAH5, DNAH11, RPGR, RSPH4A, RSPH9, CCDC40, CCDC39

Nephronophthise Gen-Panel (11 Gene)
NPHP1, NPHP3, NPHP4, CEP290, GLIS2, INVS, IQCB1, RPGRIP1L, NEK8, SDCCAG8, TTC21B

Senior-Loken-Syndrom Gen-Panel (3 Gene)
INVS, NPHP1, SDCCAG8

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 (11 Gene)
AHI1, ARL13B, C5orf42, CEP41, KIF7, NPHP1, OFD1,TCTN1,TMEM138,TMEM237,TTC21B

Bardet- Biedl-Syndrom Gen-Panel (18 Gene)
ALMS1, ARL6, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, CCDC28B, CEP290, MKKS, MKS1, SDCCAG8, TRIM32, TTC8, 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

Ciliopathien (gesamt) Gen-Panel (107 Gene)
AHI1, ALMS1, ARL13B, ARL6, ATXN10, B9D1, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, C2orf71, C5orf42, C8orf37, CC2D2A, CCDC103, CCDC28B, CCDC39, CCDC40, CDH23, CEP290, CEP41, CLRN1, DFNB31, DNAAF1, DNAAF2, DNAAF3, DNAH11, DNAH5, DNAI1, DNAI2, DNAL1, DYNC2H1, DYX1C1, EVC, EVC2, FAM161A, FLCN, GLIS2, GPR98, HEATR2, HYDIN, HYLS1, IFT122, IFT140, IFT43, IFT80, INVS, IQCB1, KIF7, LCA5, LRRC6, LZTFL1, MAK, MKKS, MKS1, MYO7A, NEK1, NEK8, NLGN4X, NME8, NPHP1, NPHP3, NPHP4, NR2E3, OCRL, OFD1, PCDH15, PDZD7, PKD1, PKD2, PKHD1, PTPRQ, RP1, RP2, RPGR, RPGRIP1, RPGRIP1L, RSPH4A, RSPH9, SDCCAG8, SPAG1, SPATA7, TCTN1, TCTN2, TMEM138, TMEM216, TMEM237, TMEM67, TOPORS, TRIM32, TTBK2, TTC21B, TTC8, TULP1, USH1C, USH1G, USH2A, VHL, WDPCP, WDR19, WDR35, XPNPEP3