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TAT:

40

Tipo di Campione:

Metodica:

Analisi presente in:

Retinal Dystrophies – Panel

Geni/Polimorfismi:

ABCA4, ABHD12, ACO2, ADAMTS18, ADGRV1/GPR98, AHI1, AIPL1, ALMS1, ARL13B, ARL6, ATF6, B9D1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BEST1, C1QTNF5, C2ORF71, C5ORF42, C8ORF37, CA4, CABP4, CACNA1F, CACNA2D4, CC2D2A, CDH23, CDH3, CDHR1, CEP290, CEP41, CERKL, CFH, CHM, CIB2, CLN3, CLRN1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, CRB1, CRX, CYP4V2, DHDDS, EFEMP1, ELOVL4, EYS, FAM161A, FLVCR1, FRMD7, FSCN2, FZD4, GDF6, GNAT1, GNAT2, GNB3, GPR179, GRK1, GRM6, GUCA1A, GUCA1B, GUCY2D, HGSNAT, HK1, HMCN1, IDH3B, IFT140, IMPDH1, IMPG2, INPP5E, INVS/NPHP2, IQCB1, KCNJ13, KCNV2, KIF7, KLHL7, LCA5, LRAT, LRP5, LZTFL1, MAK, MERTK, MFRP, MFSD8, MKKS, MKS1, MVK, MYO7A, NDP, NEUROD1, NMNAT1, NPHP1, NPHP3, NR2E3, NR2F1, NRL, NYX, OAT, OFD1, OPA1, OPN1LW, OPN1MW, PANK2, PCDH15, PDE6A, PDE6B, PDE6C, PDE6G, PDE6H, PDZD7, PHYH, PITPNM3, PLA2G5, POMGNT1, PRCD, PROM1, PRPF3, PRPF31, PRPF6, PRPF8, PRPH2, RAB28, RAX2, RBP3, RBP4, RD3, RDH12, RDH5, RGR, RGS9, RGS9BP, RHO, RIMS1, RLBP1, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1, RPGRIP1L, RRH, RS1, SAG, SEMA4A, SLC24A1, SNRNP200, SPATA7, TCTN1, TCTN2, TMEM138, TMEM216, TMEM67, TOPORS, TRAF3IP1, TRPM1, TSPAN12, TTC8, TTPA, UNC119, USH1C, USH1G, USH2A, VCAN, WDPCP, WDR19, WHRN, ZNF513
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