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Diseases of the posterior ocular segment (WES based NGS panel for 307 gene, including CNV analysis)

Rare diseases

Methodology

NGS

Sample requirements

Descriptive Volume / Concentration Tube / bracket type Transport Temperature Sample viability (days)
DNA
≥ 100 µL [50 ng/µL]
Eppendorf Safe-lock
Room temp.
n/a

Response time (days)

60

Gene

ABCA4, ABHD12, ACBD5, ACO2, ADAM9, ADAMTS18, ADGRA3, ADGRV1, AGBL5, AHI1, AIPL1, ALMS1, AMN, ARHGEF18, ARL13B, ARL2BP, ARL6, ARMS2, ATF6, ATOH7, ATP13A2, B3GLCT, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCOR, BEST1, BMP4, C1QTNF5, C2, C21orf2, C2orf71, C3, C5orf42, C8orf37, CA4, CABP4, CACNA1F, CACNA2D4, CAPN5, CC2D2A, CCZ1B, CDH23, CDH3, CDHR1, CEP164, CEP290, CEP41, CEP78, CERKL, CFB, CFH, CHM, CIB2, CLN3, CLN5, CLN6, CLN8, CLRN1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL11A1, COL11A2, COL18A1, COL2A1, COL4A1, COL9A1, COL9A2, CRB1, CROCC, CRX, CSPP1, CTNNB1, CTSD, CUBN, CYP1B1, CYP27A1, CYP2R1, CYP4V2, DHDDS, DHX38, DTHD1, EFEMP1, ELOVL4, EMC1, ERCC6, ERCC8, EYS, FAM161A, FAM57B, FAM71A, FBLN5, FLVCR1, FOXC1, FOXE3, FOXI2, FRAS1, FREM1, FREM2, FSCN2, FUT5, FZD4, GDF6, GNAT1, GNAT2, GNPTG, GP1BA, GPR143, GPR179, GRIP1, GRK1, GRM6, GRN, GUCA1A, GUCA1B, GUCY2D, HARS, HCCS, HGSNAT, HK1, HMCN1, HMX1, HTRA1, IDH3B, IFT140, IMPDH1, IMPG1, IMPG2, INPP5E, INVS, IQCB1, IRX5, ITIH2, ITM2B, KCNJ13, KCNV2, KCTD7, KIAA1549, KIF11, KIF7, KIZ, KLHL7, LCA5, LRAT, LRIT3, LRMDA, LRP2, LRP5, LZTFL1, MAK, MERTK, MFN2, MFRP, MFSD8, MKKS, MKS1, MTTP, MVK, MYO7A, MYOC, NAALADL1, NDP, NEK2, NMNAT1, NPHP1, NPHP3, NPHP4, NR2E3, NR2F1, NRL, NUMB, NYX, OAT, OCA2, OFD1, OPA1, OPA3, OPN1LW, OPN1MW, OR2M7, OTX2, P3H2, PANK2, PAX6, PCDH15, PCYT1A, PDAP1, PDE6A, PDE6B, PDE6C, PDE6G, PDE6H, PDZD7, PEX1, PEX2, PEX7, PHYH, PITPNM3, PITX2, PITX3, PLA2G5, PLD4, POC1B, PODNL1, POMZP3, PPT1, PRCD, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, PRPS1, PRTFDC1, RAB28, RAX2, RB1, RBP3, RBP4, RCBTB1, RD3, RDH12, RDH5, RGR, RGS9, RGS9BP, RHO, RIMS1, RLBP1, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1, RPGRIP1L, RS1, SAG, SCAPER, SDCCAG8, SEMA4A, SLC24A1, SLC24A5, SLC37A3, SLC38A8, SLC45A2, SLC7A14, SMOC1, SNRNP200, SOX2, SPATA7, SPG7, STRA6, TCTN1, TCTN2, TCTN3, TEAD1, TEX28, TIMM8A, TIMP3, TMEM126A, TMEM216, TMEM237, TMEM67, TOPORS, TPP1, TRIM32, TRPM1, TSPAN12, TTC21B, TTC8, TTLL5, TUB, TULP1, TYR, TYRP1, UBAP1L, UNC119, USH1C, USH1G, USH2A, VAX1, VCAN, VPS13B, VSX2, WASF3, WDPCP, WDR19, WFS1, WHRN, WT1, ZNF408, ZNF423, ZNF513.
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