Eye Diseases Panel (349 Genes)
| TEST CODE | MGP1250 |
| TEST NAME | Eye Diseases Panel (349 Genes) |
| RELATED GENE | ABCA4,ABCB6,ABCD1,ABHD12,ACO2,ACOX1,ADAM9,ADAMTSL4,AFG3L2,AGBL1,AGK,AHI1,AIPL1,ALMS1,ANTXR1,AP3B1,AP3D1,ARL13B,ARL3,BBS1,BBS10,BBS12,BBS2,BBS4,BBS5,BBS7,BBS9,BCOR,BEST1,BFSP1,BFSP2,BLOC1S6,BMP4,C1QTNF5,C8orf37,CA4,CABP4,CACNA1F,CACNA2D4,CC2D2A,CCDC28B,CDH23,CDH3,CDHR1,CELSR2,CEP164,CEP290,CEP41,CERKL,CFH,CHD7,CHM,CHMP4B,CHN1,CHST6,CIB2,CISD2,CLN3,CLRN1,CNGA1,CNGA3,CNGB1,CNGB3,CNNM4,CTDP1,CTNNB1,CYP1B1,CYP27A1,DCN,DNM1L,EDNRB,EFEMP1,ELOVL4,EYA1,EYS,FAM126A,FAM161A,FBN1,FLVCR1,FOXC1,FOXE3,FREM1,FRMD7,FYCO1,FZD4,GALK1,GALT,GDF6,GJA3,GJA8,GNAT1,GNAT2,GNB3,GPR143,GPR179,GRM6,GSN,GUCA1A,GUCA1B,GUCY2D,HESX1,HGSNAT,HK1,HMX1,HPS1,HPS3,HPS4,HPS5,HPS6,HSD17B4,HSF4,HYLS1,IFT140,IFT172,IMPDH1,IMPG2,INPP5E,INVS,IQCB1,KCNV2,KIF11,KIF21A,KIF7,KIT,KLHL7,KRT12,KRT3,LCA5,LIM2,LOXHD1,LRAT,LRIT3,LRP5,LTBP2,LYST,LZTFL1,MAF,MAFB,MAK,MC1R,MERTK,MFN2,MFRP,MFSD8,MIP,MITF,MKKS,MKS1,MLPH,MYO5A,MYO7A,MYOC,NDP,NF2,NHS,NMNAT1,NPHP1,NPHP3,NPHP4,NR2E3,NR2F1,NRL,NTF4,NYX,OAT,OCA2,OCRL,OFD1,OPA1,OPA3,OPTN,OTX2,PAX2,PAX3,PAX6,PCDH15,PDE6A,PDE6B,PDE6C,PDE6G,PDE6H,PDZD7,PEX1,PEX10,PEX11B,PEX12,PEX13,PEX14,PEX16,PEX19,PEX2,PEX26,PEX3,PEX5,PEX6,PEX7,PHOX2A,PHYH,PIGL,PIKFYVE,PITPNM3,PITX2,PITX3,PLA2G5,POLG,POLG2,POMGNT1,PRCD,PRDM5,PROKR2,PROM1,PRPF3,PRPF31,PRPF6,PRPF8,PRPH2,PRSS56,RAB3GAP1,RAX,RAX2,RBP3,RBP4,RCBTB1,RD3,RDH12,RDH5,RECQL4,RGR,RGS9,RGS9BP,RHO,RIMS1,RLBP1,ROBO3,ROM1,RP1,RP1L1,RP2,RP9,RPE65,RPGR,RPGRIP1,RPGRIP1L,RRM2B,RS1,SAG,SALL4,SC5D,SCLT1,SDCCAG8,SEMA4A,SHH,SIL1,SIX6,SLC16A12,SLC24A1,SLC24A5,SLC25A4,SLC45A2,SLC4A11,SMOC1,SNAI2,SNRNP200,SOX10,SOX2,SOX3,SPATA7,SPG7,TCF4,TCTN1,TCTN2,TCTN3,TDRD7,TEK,TGFBI,TIMM8A,TIMP3,TK2,TMEM126A,TMEM138,TMEM216,TMEM231,TMEM237,TMEM67,TOPORS,TRIM32,TRPM1,TSPAN12,TTC21B,TTC8,TUBA3D,TUBB2B,TUBB3,TULP1,TYMP,TYR,TYRP1,UBIAD1,USH1C,USH1G,USH2A,VAX1,VCAN,VIM,VPS13B,VSX1,VSX2,WDPCP,WDR19,WDR36,WFS1,ZNF423,ZNF469,ARL6,ATF6,ATOH7,B9D1,B9D2,COL11A1,COL11A2,COL17A1,COL18A1,COL8A2,COL9A1,COL9A2,COL9A3,CRB1,CRX,CRYBA1,CRYBA4,CRYBB1,CRYBB2,CRYBB3,CRYGC,CRYGD,CRYGS,FGFR1,GRK1,HCCS,IRX1,KCNJ13,PXDN,RAB27A,STRA6,SUFU,TACSTD2,TBK1,WRN,ZEB1 |
| SYNONYMOUS | ABCA4,ABCB6,ABCD1,ABHD12,ACO2,ACOX1,ADAM9,ADAMTSL4,AFG3L2,AGBL1,AGK,AHI1,AIPL1,ALMS1,ANTXR1,AP3B1,AP3D1,ARL13B,ARL3,BBS1,BBS10,BBS12,BBS2,BBS4,BBS5,BBS7,BBS9,BCOR,BEST1,BFSP1,BFSP2,BLOC1S6,BMP4,C1QTNF5,C8orf37,CA4,CABP4,CACNA1F,CACNA2D4,CC2D2A,CCDC28B,CDH23,CDH3,CDHR1,CELSR2,CEP164,CEP290,CEP41,CERKL,CFH,CHD7,CHM,CHMP4B,CHN1,CHST6,CIB2,CISD2,CLN3,CLRN1,CNGA1,CNGA3,CNGB1,CNGB3,CNNM4,CTDP1,CTNNB1,CYP1B1,CYP27A1,DCN,DNM1L,EDNRB,EFEMP1,ELOVL4,EYA1,EYS,FAM126A,FAM161A,FBN1,FLVCR1,FOXC1,FOXE3,FREM1,FRMD7,FYCO1,FZD4,GALK1,GALT,GDF6,GJA3,GJA8,GNAT1,GNAT2,GNB3,GPR143,GPR179,GRM6,GSN,GUCA1A,GUCA1B,GUCY2D,HESX1,HGSNAT,HK1,HMX1,HPS1,HPS3,HPS4,HPS5,HPS6,HSD17B4,HSF4,HYLS1,IFT140,IFT172,IMPDH1,IMPG2,INPP5E,INVS,IQCB1,KCNV2,KIF11,KIF21A,KIF7,KIT,KLHL7,KRT12,KRT3,LCA5,LIM2,LOXHD1,LRAT,LRIT3,LRP5,LTBP2,LYST,LZTFL1,MAF,MAFB,MAK,MC1R,MERTK,MFN2,MFRP,MFSD8,MIP,MITF,MKKS,MKS1,MLPH,MYO5A,MYO7A,MYOC,NDP,NF2,NHS,NMNAT1,NPHP1,NPHP3,NPHP4,NR2E3,NR2F1,NRL,NTF4,NYX,OAT,OCA2,OCRL,OFD1,OPA1,OPA3,OPTN,OTX2,PAX2,PAX3,PAX6,PCDH15,PDE6A,PDE6B,PDE6C,PDE6G,PDE6H,PDZD7,PEX1,PEX10,PEX11B,PEX12,PEX13,PEX14,PEX16,PEX19,PEX2,PEX26,PEX3,PEX5,PEX6,PEX7,PHOX2A,PHYH,PIGL,PIKFYVE,PITPNM3,PITX2,PITX3,PLA2G5,POLG,POLG2,POMGNT1,PRCD,PRDM5,PROKR2,PROM1,PRPF3,PRPF31,PRPF6,PRPF8,PRPH2,PRSS56,RAB3GAP1,RAX,RAX2,RBP3,RBP4,RCBTB1,RD3,RDH12,RDH5,RECQL4,RGR,RGS9,RGS9BP,RHO,RIMS1,RLBP1,ROBO3,ROM1,RP1,RP1L1,RP2,RP9,RPE65,RPGR,RPGRIP1,RPGRIP1L,RRM2B,RS1,SAG,SALL4,SC5D,SCLT1,SDCCAG8,SEMA4A,SHH,SIL1,SIX6,SLC16A12,SLC24A1,SLC24A5,SLC25A4,SLC45A2,SLC4A11,SMOC1,SNAI2,SNRNP200,SOX10,SOX2,SOX3,SPATA7,SPG7,TCF4,TCTN1,TCTN2,TCTN3,TDRD7,TEK,TGFBI,TIMM8A,TIMP3,TK2,TMEM126A,TMEM138,TMEM216,TMEM231,TMEM237,TMEM67,TOPORS,TRIM32,TRPM1,TSPAN12,TTC21B,TTC8,TUBA3D,TUBB2B,TUBB3,TULP1,TYMP,TYR,TYRP1,UBIAD1,USH1C,USH1G,USH2A,VAX1,VCAN,VIM,VPS13B,VSX1,VSX2,WDPCP,WDR19,WDR36,WFS1,ZNF423,ZNF469,ARL6,ATF6,ATOH7,B9D1,B9D2,COL11A1,COL11A2,COL17A1,COL18A1,COL8A2,COL9A1,COL9A2,COL9A3,CRB1,CRX,CRYBA1,CRYBA4,CRYBB1,CRYBB2,CRYBB3,CRYGC,CRYGD,CRYGS,FGFR1,GRK1,HCCS,IRX1,KCNJ13,PXDN,RAB27A,STRA6,SUFU,TACSTD2,TBK1,WRN,ZEB1 |
| OMIM | |
| HEREDITY | |
| CLINICAL AREA | |
| METHOD | CES |
| SAMPLE TYPE | Blood with EDTA |
| QUANTITY | 3 ml |
| TAT | 40 DAYS |
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