Retinitis Pigmentosa Panel (32 Genes)
| TEST CODE | MGT0260 |
| TEST NAME | Retinitis Pigmentosa Panel (137 Genes) |
| RELATED GENE | ABCA4, ABHD12, ADGRA3, AIPL1, ARL2BP, ARL6, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BEST1, C1QTNF5, C2orf71, C8orf37, CA4, CACNA1F, CC2D2A, CDH23, CDHR1, CEP290, CERKL, CHM, CLN3, CLRN1, CNGA1, CNGA3, CNGB1, CRB1, CRX, CYP4V2, DHDDS, DHX38, ELOVL4, EMC1, EXOSC2, EYS, FAM161A, FLVCR1, FSCN2, GNPTG, GUCA1B, GUCY2D, HGSNAT, HK1, IDH3B, IFT172, IFT43, IMPDH1, IMPG2, INPP5E, INVS, IQCB1, KIAA1549, KIZ, KLHL7, LCA5, LRAT, LRP5, MAK, MERTK, MFRP, MKKS, MYO7A, NEK2, NEUROD1, NMNAT1, NPHP1, NPHP3, NPHP4, NR2E3, NRL, OAT, PCDH15, PDE6A, PDE6B, PDE6C, PDE6G, PDE6H, PEX1, PEX2, PEX26, PEX7, PHYH, PITPNM3, PLA2G5, PRCD, PRKCG, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, RBP3, RBP4, RD3, RDH11, RDH12, RGR, RHO, RLBP1, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1, RPGRIP1L, RS1, SAG, SEMA4A, SLC7A14, SNRNP200, SPATA7, SPP2, TMEM216, TOPORS, TRIM32, TRNT1, TTC8, TTPA, TUB, TULP1, USH1C, USH2A, WDR19, WFS1, WHRN, ZNF408, ZNF513 |
| SYNONYMOUS | ABCA4, ABHD12, ADGRA3, AIPL1, ARL2BP, ARL6, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BEST1, C1QTNF5, C2orf71, C8orf37, CA4, CACNA1F, CC2D2A, CDH23, CDHR1, CEP290, CERKL, CHM, CLN3, CLRN1, CNGA1, CNGA3, CNGB1, CRB1, CRX, CYP4V2, DHDDS, DHX38, ELOVL4, EMC1, EXOSC2, EYS, FAM161A, FLVCR1, FSCN2, GNPTG, GUCA1B, GUCY2D, HGSNAT, HK1, IDH3B, IFT172, IFT43, IMPDH1, IMPG2, INPP5E, INVS, IQCB1, KIAA1549, KIZ, KLHL7, LCA5, LRAT, LRP5, MAK, MERTK, MFRP, MKKS, MYO7A, NEK2, NEUROD1, NMNAT1, NPHP1, NPHP3, NPHP4, NR2E3, NRL, OAT, PCDH15, PDE6A, PDE6B, PDE6C, PDE6G, PDE6H, PEX1, PEX2, PEX26, PEX7, PHYH, PITPNM3, PLA2G5, PRCD, PRKCG, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, RBP3, RBP4, RD3, RDH11, RDH12, RGR, RHO, RLBP1, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1, RPGRIP1L, RS1, SAG, SEMA4A, SLC7A14, SNRNP200, SPATA7, SPP2, TMEM216, TOPORS, TRIM32, TRNT1, TTC8, TTPA, TUB, TULP1, USH1C, USH2A, WDR19, WFS1, WHRN, ZNF408, ZNF513 |
| OMIM | |
| HEREDITY | |
| CLINICAL AREA | Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous hereditary primary retinal degeneration characterized by progressive dysfunction, cell loss and atrophy of the retinal tissue, firstly the rods and then the cones. 32 genes associated with the disease are examined within the scope of the panel. |
| METHOD | Next Generation Sequencing (NGS) |
| SAMPLE TYPE | Blood with EDTA |
| QUANTITY | 3 mL |
| TAT | 40 DAYS |
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