Molekulargenetik
Augenerkrankungen
Anforderungsbeleg
AFB_Molekulargenetik
Retinitis Pigmentosa / StÀbchendystrophie, Basisdiagnostik
CNGB1, CRB1, EYS, IMPDH1, NR2E3, PDE6A, PDE6B, PROM1, PRPF31, PRPF8, RBP3, RDH12, RHO, RP1, RP2, RPE65, RPGR, SNRNP200, TOPORS, USH2A
Retinitis Pigmentosa / StÀbchendystrophie, Erweiterte Diagnostik
ABCA4, ADGRA3, ADIPOR1, AHI1, AHR, ARL2BP, ARL3, ARL6, BBS1, BBS2, BBS9, C8orf37, CA4, CACNA1F, CDHR1, CEP290, CERKL, CHM, CLN3, CLRN1, CNGA1, CRX, CYP4V2, DHDDS, DHX38, FAM161A, FLVCR1, FSCN2, GNAT1, GPR179, GUCA1B, HGSNAT, HK1, IDH3B, IFT140, IFT172, IMPG2, KIAA1549, KIZ, KLHL7, LRAT, MAK, MERTK, MFRP, NEUROD1, NRL, PCARE (C2orf71), PCYT1A, PDE6G, PLA2G5, POMGNT1, PRCD, PRPF3, PRPF4, PRPF6, PRPF8, PRPH2, RAX2, RBP4, RCBTB1, RDH11, RGR, RLBP1, ROM1, RP1L1, RP9, RPGRIP1, SAG, SCAPER, SEMA4A, SLC7A14, SPATA7, SPP2, TUB, TULP1, ZNF408, ZNF513
Retinoschisis
CRB1, MFRP, RS1