Silmahaigused 277 geeni sekveneerimisega

Geenid: ABCA4, ABCB6, ABCC6, ABHD12, ACBD5, ADAM9, ADAMTS18, AGK, AHI1, AIPL1, ALMS1, ARL13B, ARL6, B3GLCT, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCOR, BEST1, BFSP2, BMP4, C19ORF12, C1QTNF5, C2orf71, C8ORF37, CA4, CABP4, CACNA1F, CACNA2D4, CC2D2A, CDH23, CDH3, CDHR1, CEP290, CEP41, CERKL, CFH, CHM, CHMP4B, CHST6, CIB2, CLN3, CLN5, CLN6, CLN8, CLRN1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL11A1, COL11A2, COL2A1, COL4A1, COL8A2, COL9A1, COL9A2, CRB1, CRX, CRYAA, CRYAB, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC, CRYGD, CRYGS, CTDP1, CTSD, CYP1B1, CYP4V2, DCN, DFNB31, DHDDS, EFEMP1, ELOVL4, EPHA2, EYS, FAM161A, FLVCR1, FRAS1, FREM1, FREM2, FSCN2, FTL, FYCO1, FZD4, GALK1, GALT, GDF3, GDF6, GFER, GIPC3, GJA1, GJA3, GNAT1, GNAT2, GNPTG, GPR143, GPR179, GPR98, GRIP1, GRK1, GRM6, GRN, GSN, GUCA1A, GUCA1B, GUCY2D, HARS, HCCS, HMX1, HSF4, IDH3B, IFT140, IMPDH1, IMPG2, INVS, ITM2B, IQCB1, JAG1, JAM3, KCNJ13, KCNV2, KIF11, KIF7, KLHL7, KRT12, KRT3, LAMA1, LCA5, LIM2, LRAT, LRP5, LZTFL1, MAK, MERTK, MFN2, MFRP, MFSD8, MIP, MKKS, MKS1, MTTP, MVK, MYO7A, MYOC, NAA10, NDP, NHS, NMNAT1, NPHP1, NPHP3, NPHP4, NR2E3, NRL, NYX, OAT, OFD1, OPA1, OPA3, OPN1MW, OTX2, PANK2, PAX2, PAX6, PCDH15, PDE6A, PDE6B, PDE6C, PDE6G, PDE6H, PDZD7, PEX7, PHYH, PIKFYVE, PITPNM3, PITX2, PITX3, PLA2G5, PPT1, PRCD, PRDM5, PROM1, PRPF3, PRPF31, PRPF6, PRPF8, PRPH2, PRSS56, RAB28, RAX2, RBP3, RBP4, RD3, RDH12, RDH5, RGR, RGS9, RGS9BP, RHO, RIMS1, RLBP1, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR (excluding ORF15), RPGRIP1, RPGRIP1L, RS1, SAG, SDCCAG8, SEMA4A, SIX6, SLC24A1, SLC45A2, SLC4A11, SMOC1, SNRNP200, SOX2, SPATA7, STRA6, TACSTD2, TCTN1, TCTN2, TDRD7, TEAD1, TGFBI, TIMM8A, TIMP3, TMEM126A, TMEM138, TMEM216, TMEM237, TMEM67, TOPORS, TPP1, TREX1, TRIM32, TRPM1, TSPAN12, TTC21B, TTC8, TULP1, TYR, TYRP1, UBIAD1, UNC119, USH1C, USH1G, USH2A, VAX1, VCAN, VIM, VPS13B, VSX1, VSX2, WDPCP, WDR19, WFS1, YAP1, ZEB1, ZNF469, ZNF513, ZNF644

Metoodika: Kodeeriva piirkonna sekveneerimine (NGS)

Testi valmimisaeg: 6-9 nädalat

Nõuded proovi-
materjalile:
2-4 ml täisverd antikoagulandiga EDTA (lilla korgiga katsuti)

1 µg DNA-d elueerituna TE, AE puhvris või steriilses vees, kontsentratsiooniga 100-250 ng/µl
DNA saata toatemperatuuril või külmutatuna. A260/A280 suhe peaks olema 1.8-2.0. DNA peab agaroosgeelis olema detekteeritav ühe tervikliku bändina.


Tellimine: Proovimaterjal saata koos saatekirjaga Asper Biotechi laborisse