Inherited NephroKitDx

Protocol automated using Magnis NGS Prep System

Study of genetic alterations in the coding regions of 529 genes

16 rxn

NGS sequencing

IMG-370

Library preparation: Magnis NGS Prep System (Agilent); Sequencing: NextSeq 500/550Dx System

Protocol automated using Magnis NGS Prep System
  • SNV and indel analysis in genes with full exonic regions and intronic regions of genetic interest, as well as CNV analysis.
  • STIDs can be included: Integrated sample identification and tracking system.
  • Average coverage without duplicates: 1200X.
  • Coverage: 99,7% of bases covered at 50X depth.
  • Uniformity: 97,5% of bases covered at >20% mean coverage.
  • Sensitivity: > 99%.
  • Specificity: > 99%.
  • Repeatability: > 99%.
  • Reproducibility: > 99%.
  • Analysis software included: Data Genomics.
  • For research use only, intended for professionals working in molecular biology.

Inherited NephroKitDx employs fully automated library preparation technology by enzymatic fragmentation and enrichment of regions of interest by hybridization with capture probes. Subsequently, massive sequencing is carried out on Illumina platforms.

  • Compatible sequencers: NextSeq 500/550Dx System
  • Number of reactions: 16
  • Number of samples per run: Mid Output V2.5 Kit (300 cycles): 8 samples
  • Sequencing: Paired-end (2×150 cycles)
  • Type of sample: DNA from peripheral blood
  • Amount of input DNA: 50-100 ng
  • Target genes (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

Inherited NephroKitDx

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