OftalmoRef retinopatii - 296 gene + ADNmt
Gene studiate:
ABCA4, ABCC6, ABHD12, ACBD5, ACO2, ADAM9, ADAMTS18, ADGRA3, ADGRV1, ADIPOR1, AFG3L2, AGBL5, AHI1, AHR, AIPL1, AIRE, ALDH3A2, ALMS1, AMACR, ARHGEF18, ARL13B, ARL2BP, ARL6, ARMS2, ARSG, ATF6, ATOH7, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BEST1, C1QTNF5, C2, C3, C9, CA4, CABP4, CACNA1F, CACNA2D4, CAPN5, CC2D2A, CDH23, CDH3, CDHR1, CEP164, CEP19, CEP250, CEP290, CEP78, CERKL, CFAP410, CFAP418, CFB, CFH, CFI, CHM, CLN3, CLN5, CLN6, CLN8, CLRN1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL11A1, COL18A1, COL4A1, COL9A1, COL9A2, COL9A3, COQ2, COQ5, CRB1, CRX, CSPP1, CST3, CTC1, CTNNA1, CTNNB1, CTSD, CX3CR1, CYP2R1, CYP4V2, DHDDS, DHX38, DMD, DRAM2, EFEMP1, ELOVL4, EMC1, ERCC6, ERCC8, ESPN, EYS, FAM161A, FBLN5, FBN2, FLVCR1, FRMD7, FSCN2, FZD4, GDF6, GNAT1, GNAT2, GNB3, GNPTG, GPR143, GPR179, GRK1, GRM6, GRN, GUCA1A, GUCA1B, GUCY2D, HCCS, HGSNAT, HK1, HMX1, HTRA1, IDH3B, IFT140, IFT172, IFT27, IFT74, IFT81, IKBKG, IL6, IMPDH1, IMPG1, IMPG2, INPP5E, IQCB1, JAG1, KCNJ13, KCNV2, KIAA1549, KIF11, KIZ, KLHL7, LAMA1, LCA5, LRAT, LRIT3, LRP2, LRP5, LZTFL1, MAK, MED12, MERTK, MFRP, MFSD8, MIR204, MKKS, MKS1, MMACHC, MTRFR, MTTP, MVK, MYO7A, NBAS, NDP, NEK2, NEUROD1, NLRP3, NMNAT1, NPHP1, NPHP3, NPHP4, NR2E3, NRL, NYX, OAT, OFD1, OPN1LW, OPN1MW, OPN1SW, OTX2, P3H2, PANK2, PAX2, PCARE, PCDH15, PCYT1A, PDE6A, PDE6B, PDE6C, PDE6G, PDE6H, PDSS1, PEX1, PEX2, PEX6, PEX7, PGK1, PHYH, PITPNM3, PLA2G5, PLK4, PNPLA6, POC1B, POMGNT1, POMGNT2, POMT1, PPT1, PRCD, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, PRPS1, RAB28, RAX2, RBP3, RBP4, RCBTB1, RD3, RDH11, RDH12, RDH5, REEP6, RGR, RGS9, RGS9BP, RHO, RIMS1, RLBP1, RNU4ATAC, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1, RPGRIP1L, RS1, RTN4IP1, SAG, SCAPER, SDCCAG8, SEMA4A, SLC24A1, SLC25A46, SLC38A8, SLC6A6, SLC7A14, SNRNP200, SPATA7, SPTLC1, SRD5A3, STN1, TIMM8A, TIMP3, TINF2, TLR4, TMEM216, TMEM231, TMEM237, TOPORS, TPP1, TRAF3IP1, TREX1, TRNT1, TRPM1, TSPAN12, TTC8, TTLL5, TTPA, TUB, TUBGCP4, TUBGCP6, TULP1, UNC119, USH1C, USH1G, USH2A, VCAN, VPS13B, WDPCP, WDR19, WHRN, ZFYVE26, ZNF408, ZNF423, ZNF513.
Metode și materiale folosite
- MetodaMassive sequencing data analysis (NGS)
- Material uzualsânge integral EDTA (dop mov) - două tuburi primare
- Transport (temp. °C)2 - 8
- Cantitate minimă5 mL
- FrecvențaTransmis
- Observații
Este necesară completarea fișei de însoțire probă (engleză și română) și a formularului de consimțământ (engleză și română) de către medic.
Program recoltare: luni și marți, până la ora 15:00, cu excepția laboratorului central Timișoara (luni, marți și miercuri), până la ora 12:00).
Rezultat în maxim 40 - 50 de zile.