Skip to main content
Sem resultados.
 
Linha de Apoio ao Cliente Unilabs
2ª a 6ª das 8h00 às 20h00
sábado das 8h30 às 13h00
Voltar

Doenças do segmento posterior ocular (painel NGS baseado em WES de 307 genes, incluindo análise de CNVs)

Doenças Raras

Metodologia

NGS

Requisitos da amostra

Descritivo Volume / Concentração Tipo de tubo/ suporte Temperatura de Transporte Viabilidade da amostra (dias)
DNA
≥ 100 µL [50 ng/µL]
Eppendorf Safe-lock
Ambiente
n/a

Tempo de resposta (dias)

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.
x

Bem-vindo ao Unilabs.pt

Visitar unilabs.com

OU ESCOLHA UM PAÍS UNILABS DA LISTA