Inherited NephroKitDx

Inherited NephroKitDx emplea una tecnología de preparación de librerías totalmente automatizada mediante fragmentación enzimática y de enriquecimiento de las regiones de interés mediante hibridación con sondas de captura. Posteriormente, la secuenciación masiva se lleva a cabo en plataformas de Illumina.

• Secuenciadores compatibles: NextSeq 500/550Dx System
• Número de reacciones: 16
• Número de muestras por carrera: Mid Output V2.5 Kit (300 cycles): 8 muestras
• Secuenciación: Paired-end (2×150 ciclos)
• Tipo de muestra: ADN procedente de sangre periférica
• Cantidad de ADN de partida: 50-100 ng
• Panel totalmente automatizado en el equipo robot Magnis NGS Prep System Dx
• Genes diana (529 genes): ACE, ACTB, ACTG1, ACTN4, ADAMTS13, ADAMTS9, ADCY10, AGT, AGTR1, AGXT, AHI1, ALG1, ALG8, ALG9, ALMS1, ALPL, AMER1, ANKFY1, ANKS6, ANLN, ANOS1, AP2S1, APOA1, APOA4, APOE, APOL1, APRT, AQP2, ARHGAP24, ARHGDIA, ARL13B, ARL3, ARL6, ARMC9, ATN1, ATP6V0A4, ATP6V1B1, ATP6V1C2, AVIL, AVP, AVPR2, B2M, B3GLCT, B9D1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BICC1, BMP2, BMP4, BMPER, BNC2, BSCL2, BSND, C1QA, C1QB, C1QC, C3, C4A, C4B, C8ORF37, CA1, CA2, CASP10, CASR, CC2D2A, CCBE1, CCDC28B, CCL2, CCNQ, CD151, CD2AP, CD46, CD81, CD96, CDC42, CDC5L, CDC73, CDK10, CDK20, CDKN1C, CENPF, CEP104, CEP120, CEP164, CEP290, CEP41, CEP55, CEP83, CFB, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, CFP, CHD1L, CHD7, CHRM3, CISD2, CIT, CLCN5, CLCN7, CLCNKA, CLCNKB, CLDN10, CLDN16, CLDN19, CNNM2, COL4A1, COL4A3, COL4A4, COL4A5, COL4A6, COPA, COQ2, COQ4, COQ6, COQ7, COQ8A, COQ8B, COQ9, CPLANE1, CPT1A, CRB2, CRKL, CSPP1, CTH, CTLA4, CTNS, CTU2, CUBN, CUL3, CYP24A1, DACH1, DACT1, DCDC2, DCHS1, DDX59, DGKE, DHCR7, DLC1, DMP1, DNAJB11, DNASE1, DSTYK, DVL1, DVL3, DYNC2H1, DYNC2LI1, DZIP1L, EGF, EHHADH, EMP2, ENPP1, EP300, ESCO2, ETFA, ETFB, ETFDH, ETV4, EXOC8, EYA1, FAH, FAM20A, FAN1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCL, FAS, FASLG, FAT1, FAT4, FCGR2A, FCGR3A, FGA, FGF10, FGF20, FGF23, FGFR2, FGFR3, FLCN, FLNA, FMN1, FN1, FOXI1, FOXP1, FRAS1, FREM1, FREM2, FUZ, FXYD2, G6PD, GANAB, GAPVD1, GATA3, GCM2, GDF11, GEMIN4, GLA, GLI3, GLIS2, GLIS3, GNA11, GPC3, GPHN, GREB1L, GRHPR, GRIP1, H19, HAAO, HAS2, HES7, HGD, HNF1A, HNF1B, HNF4A, HOGA1, HPRT1, HPSE2, HSD11B2, HSD17B4, HSPA9, IFT122, IFT140, IFT172, IFT27, IFT43, IFT46, IFT52, IFT74, IFT80, IFT81, INF2, INPP5E, INTU, INVS, IQCB1, IRF5, ITGA3, ITGA8, ITGAM, ITGB4, ITSN1, ITSN2, JAG1, JAM3, KANK1, KANK2, KANK4, KAT6B, KCNA1, KCNJ1, KCNJ10, KCNJ15, KCNJ16, KCTD1, KIAA0556, KIAA0586, KIAA0753, KIF14, KIF7, KLHL3, KMT2D, KYNU, LAGE3, LAMA5, LAMB2, LCAT, LMNA, LMX1B, LRIG2, LRP2, LRP4, LRP5, LYZ, LZTFL1, MAD2L2, MAFB, MAGED2, MAGI2, MAPKBP1, MBTPS2, MCM5, MKKS, MKS1, MMACHC, MNX1, MOCOS, MOCS1, MUC1, MYCN, MYH9, MYO1E, NAA10, NCAPG2, NDUFAF3, NDUFB8, NDUFS2, NEK1, NEK8, NEU1, NFIA, NIPBL, NOS1AP, NOTCH2, NPHP1, NPHP3, NPHP4, NPHS1, NPHS2, NR3C2, NRIP1, NSDHL, NUP107, NUP133, NUP160, NUP205, NUP85, NUP93, NXF5, NXN, OCRL, OFD1, OPLAH, OSGEP, PAX2, PAX8, PBX1, PCBD1, PCSK5, PDE6D, PDSS1, PDSS2, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PGM3, PHEX, PHGDH, PIBF1, PIEZO2, PIGN, PIGT, PKD1, PKD2, PKHD1, PLA2R1, PLCE1, PMM2, PODXL, PORCN, PRKCD, PRKCSH, PRPS1, PTEN, PTPN22, PTPRO, PUF60, RAD21, RAI1, RARRES1, REN, RERE, RET, RFWD3, RMND1, RNU4ATAC, ROBO2, ROR2, RPGRIP1L, RPL26, SALL1, SALL4, SARS2, SCARB2, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SEC61A1, SEC61B, SEC63, SEMA3E, SF3B4, SGPL1, SI, SIX1, SIX2, SIX5, SLC12A1, SLC12A2, SLC12A3, SLC12A7, SLC22A12, SLC26A1, SLC26A7, SLC2A2, SLC2A9, SLC34A1, SLC34A3, SLC36A2, SLC3A1, SLC41A1, SLC4A1, SLC4A2, SLC4A4, SLC5A1, SLC5A2, SLC6A19, SLC6A20, SLC7A7, SLC7A9, SLC9A3R1, SLIT2, SMARCAL1, SNRPB, SON, SOX11, SOX17, SPRY2, SRGAP1, STAT1, STAT4, STK11, STRA6, STS, SUFU, SYNPO, TBC1D24, TBC1D8B, TBX18, TBX4, TBXT, TCTN1, TCTN2, TCTN3, TFAP2A, THBD, THOC6, TMEM107, TMEM138, TMEM216, TMEM231, TMEM237, TMEM260, TMEM67, TNFSF4, TNIP1, TNS2, TNXB, TP53RK, TP63, TPRKB, TRAF3IP1, TRAP1, TREX1, TRIM32, TRIP11, TRPC6, TRPM6, TRPS1, TRRAP, TSC1, TSC2, TTC21B, TTC37, TTC8, TXNDC15, TXNL4A, UMOD, UPK3A, USP8, VANGL1, VANGL2, VDR, VHL, VIPAS39, VPS33B, VTN, WDPCP, WDR19, WDR34, WDR35, WDR60, WDR72, WDR73, WFS1, WNK1, WNK4, WNT3, WNT4, WNT5A, WNT7A, WT1, XDH, XPNPEP3, XPO5, XRCC2, XRCC4, ZAP70, ZIC3, ZMPSTE24, ZNF148, ZNF365, ZNF423

*La detección de CNVs queda fuera del alcance del marcado CE/IVD.