- SNV and indel analysis in genes with full exonic regions and intronic regions of interest, as well as CNV analysis
- Bioinformatic analysis using the software Data Genomics.
- 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%.
- Compliant with ISO 9001 and ISO 14001 quality specifications regarding manufacturing materials.
- IVD CE-marked analysis software
Study of genetic alterations related to hereditary monogenic nephropathies
Library preparation: Magnis NGS Prep System (Agilent); Sequencing: NextSeq 550 System
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: Illumina NextSeq500/550, Illumina NextSeq2000.
- 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
*The detection of CNVs is outside the scope of the CE/IVD marking.
Fill in the form to request this kit.Call us at +34 963 212 340
Or write to us at email@example.com