Silmahaigused 284 geeni sekveneerimisega

Geenid: ABCA4, ABCB6, ABCC6, ABHD12, ACBD5, ADAM9, ADAMTS18, ADGRV1, AGK, AHI1, AIPL1, ALMS1 (v.a.ekson 8), ARL13B, ARL6, ATF6, 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, CFAP410 (C21orf2), 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, CTNNA1, CTSD, CYP1B1, CYP4V2, DCN, 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, GRIP1, GRK1, GRM6, GRN, GSN, GUCA1A, GUCA1B, GUCY2D, HARS, HCCS, HMX1, HSF4, IDH3B, IFT140, IMPDH1, IMPG1, 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, PCYT1A, PDE6A, PDE6B, PDE6C, PDE6G, PDE6H, PDZD7, PEX7, PHYH, PIKFYVE, PITPNM3, PITX2, PITX3, PLA2G5, POC1B, 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 (v.a. 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, TTLL5, TULP1, TYR, TYRP1, UBIAD1, UNC119, USH1C, USH1G, USH2A, VAX1, VCAN, VIM, VPS13B, VSX1, VSX2, WDPCP, WDR19, WFS1, WHRN, YAP1, ZEB1, ZNF469, ZNF513, ZNF644

Metoodika: Kodeeriva piirkonna sekveneerimine (NGS).
Koopiaarvu muutuste bioinformaatiline analüüs (CNV). CNV leidude kinnitamine teise meetodiga toimub lisaanalüüsina, vastavalt hinnakirjale.

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 Biogene laborisse