Oftalmologia

Retinite pigmentar

Lista de Genes
ABCA4, ABHD12, ADGRA3, ADGRV1, AGBL5, AIPL1, ARL2BP, ARL3, ARL6, ARSG
BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BEST1
C1QTNF5, CA4, CACNA1F, CC2D2A, CDH23, CDHR1, CEP290, CERKL, CFAP418, CIB2, CLN3, CLRN1, CNGA1, CNGB1, CNGB3, CRB1, CRX, CWC27, CYP4V2
DHDDS, DHX38
EFEMP1, ELOVL4, EMC1, ESPN, EYS
FAM161A, FLVCR1, FSCN2
GNPTG, GUCA1B, GUCY2D
HGSNAT, HK1
IDH3A, IDH3B, IFT140, IFT172, IMPDH1, IMPG2, INPP5E, INVS, IQCB1
KIAA1549, KIZ, KLHL7
LCA5, LRAT
MAK, MERTK, MFRP, MKKS
NDP, NEK2, NEUROD1, NMNAT1, NPHP1, NPHP3, NPHP4, NR2E3, NRL
OFD1
PCARE, PCDH15, PDE6A, PDE6B, PDE6G, PDZD7, PEX1, PEX2, PEX26, PEX7, PHYH, PITPNM3, PLA2G5, POMGNT1, PRCD, PRKCG, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2
RBP3, RBP4, RD3, RDH11, RDH12, REEP6, RGR, RHO, RLBP1, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1, RPGRIP1L
SAG, SCAPER, SEMA4A, SLC7A14, SNRNP200, SPATA7, SPP2
TOPORS, TRIM32, TRNT1, TTC8, TTPA, TUB, TULP1
USH1C, USH2A
WFS1, WHRN
ZNF408, ZNF513
90 dias
2mL de sangue em tubo com EDTA
Análise do DNA mitocondrial mediante pedido