PAINÉIS DE RETINA GENÉTICA
Panel 1: Síndrome de Usher (11 genes)
- CDH23
- CLRN1
- CLRN3
- DFNB31
- GPR98
- MYO7A
- PCDH15
- USH1C
- USH1G
- USH2A
- PDZD7 (Usher Modifier)
Panel 2: Distrofia Tapetorretiniana ("Retinose Pigmentar") de herança autossômica dominante e ligada ao X (26 genes)
- BEST1
- CA4
- CRX
- FSCN2
- GUCA1B
- IMPDH1
- KLHL7
- NR2E3
- NRL
- PAP1
- PRPF3
- PRPF31
- PRPF8
- PRPH2
- RDH12
- RGR
- RHO
- ROM1
- RP1
- RP2
- RP9
- RPE65
- RPGR
- SEMA4A
- SNRNP200
- TOPORS
Panel 3: Distrofia Tapetorretiniana ("Retinose Pigmentar") de herança autossômica recessiva (33 genes)
- ABCA4
- BBS1
- BBS8
- BEST1
- C2ORF71
- CERKL
- CNGA1
- CNGB1
- CRB1
- EYS
- IDH3B
- IMPG2
- LRAT
- MERTK
- NR2E3
- NRL
- PDE6A
- PDE6B
- PDE6G
- PRCD
- PROM1
- RBP3
- RGR
- RHO
- RLBP1
- RP1
- RP2
- RPE65
- RPGR
- SAG
- SPATA7
- TULP1
- USH2A
Panel 4: Acromatopsia (4 genes)
- CNGA3
- CNGB3
- GNAT2
- PDE6C
Panel 5: Síndrome de Bardet Biedl (14 genes)
- ALMS1
- BBS1
- BBS2
- BBS3
- BBS4
- BBS5
- BBS6
- BBS7
- BBS8
- BBS9
- BBS10
- BBS11
- BBS12
- BBS14
Panel 6: Cegueira noturna congênita estacionária (11 genes)
- CABP4
- CACNA1F
- CACNA2D4
- GNAT1
- GRK1
- GRM6
- NYX
- PDE6B
- RHO
- SAG1
- TRPM1
Panel 7: Síndrome de Joubert (10 genes)
- AHI1
- ARL13B
- CC2D2A
- CEP290
- INPP5E
- NPHP1
- OFD1
- RPGRIP1L
- TMEM216
- TMEM67
Panel 8: Amaurose Congênita de Leber (12 genes)
- AIPL1
- CEP290
- CRB1
- CRX
- GUCY2D
- LRAT
- NPHP5
- RDH5
- RDH12
- RPGRIP1
- RPE65
- SPATA7
Panel 9: Discinesia ciliar primária (6 genes)
- DNAH5
- DNAH11
- DNAI1
- DNAI2
- KTU
- TXNDC3
Panel 10: Distrofia Tapetorretiniana ("Retinose Pigmentar") associada à deficiência auditiva - Doença de Refsum (5 genes)
- >PAHX
- PEX1
- PEX7
- PEX26
- PXMP3
Panel 11: Síndrome de Senior Loken (6 genes)
- CEP290
- NPHP1
- NPHP2
- NPHP3
- NPHP4
- NPHP5
Panel 12: Doença de Stargardt e distrofias maculares (11 genes)
- ABCA4
- BEST1
- C1QTNF5
- CDH3
- CNGB3
- ELOVL4
- PRPH2
- PROM1
- RP1L1
- RPGR
- TIMP3
Panel 13: Distrofias Retinianas de Cones e Bastonetes (25 genes)
- ABCA4
- ADAM9
- AIPL1
- CABP4
- CACNA1F
- CACNA2D4
- CERKL
- CNGB3
- CRX
- GUCA1A
- GUCY2D
- KCNV2
- PCDH21
- PDE6C
- PITPNM3
- PROM1
- PRPH2
- R9AP
- RAX2
- RDH5
- RGS9
- RPGR
- RPGRIP1
- RIMS1
- SEMA4A
Panel 14: Distrofias Retinianas associadas a pontos brancos - Flecked retina disorders (6 genes)
- CHM
- COH1
- EFEMP
- RDH5
- RLBP1
- RS1
Painel 15: Degeneração Macular Relacionada à Idade (9 genes)
Inclui: Age-Related Macular Degeneration 1 | Age-Related Macular Degeneration 2 | Age-Related Macular Degeneration 3 | Age-Related Macular Degeneration 4 | Age-Related Macular Degeneration 5 | Age-Related Macular Degeneration 6 | Age-Related Macular Degeneration 7 | Age-Related Macular Degeneration 8 | Age-Related Macular Degeneration 9
- ABCA4
- ARMS2
- C3
- CFH
- ERCC6
- FBLN5
- HMCN1
- HTRA1
- MT-ND2
- RAX2