AGDx NGS – Trio test Intellectual Disabilities panel v11

Test code: V00291
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AGDx NGS ID-panel: 1227 genes. This panel is offered as a trio test only. Contact info@amsterdamgenomedx.com for individual testing possibilities.

Genes

AAAS, AARS, ABAT, ABCC9, ABCD1, ABCD4, ABHD5, ACAD9, ACBD6, ACD, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ACVR1, ACY1, ADAM22, ADAR, ADAT3, ADCK3, ADGRG1, ADK, ADNP, ADRA2B, ADSL, AFF2, AFF4, AFG3L2, AGA, AGO2, AGPAT2, AGTR2, AHCY, AHDC1, AHI1, AIFM1, AIMP1, AK1, AKT3, ALDH18A1, ALDH3A2, ALDH4A1, ALDH5A1, ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ALMS1, ALX1, ALX4, AMER1, AMMECR1, AMPD2, AMT, ANK3, ANKH, ANKLE2, ANKRD11, ANO10, ANTXR1, AP1S1, AP1S2, AP3B1, AP3B2, AP3D1, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, APC2, APOPT1, APTX, ARFGEF2, ARG1, ARHGAP31, ARHGEF6, ARHGEF9, ARID1A, ARID1B, ARID2, ARIH1, ARL13B, ARL6, ARSA, ARSE, ARX, ASAH1, ASCC1, ASCL1, ASL, ASNS, ASPA, ASPM, ASS1, ASXL1, ASXL2, ASXL3, ATCAY, ATIC, ATN1, ATP1A2, ATP1A3, ATP2A2, ATP6AP2, ATP6V0A2, ATP6V1B2, ATP7A, ATP8A2, ATPAF2, ATR, ATRX, AUH, AUTS2, AVPR2, B3GALNT2, B3GALT6, B3GALTL, B4GALNT1, B4GALT1, B4GALT7, B4GAT1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCAP31, BCKDHA, BCKDHB, BCL11A, BCOR, BCORL1, BCS1L, BLM, BRAF, BRAT1, BRD4, BRF1, BRPF1, BRWD3, BSCL2, BSND, BTD, BUB1B, C10orf2, C11ORF73, C12orf4, C12orf57, C12orf65, C2CD3, C5orf42, CA2, CA5A, CA8, CACNA1A, CACNA1C, CACNA1G, CACNA2D1, CACNG2, CAD, CAMK2A, CAMK2B, CAMTA1, CAPN10, CARS2, CASC5, CASK, CBL, CBS, CC2D1A, CC2D2A, CCBE1, CCDC115, CCDC174, CCDC22, CCDC78, CCDC88A, CCDC88C, CCND2, CDH15, CDK10, CDK13, CDK16, CDK5, CDK5RAP2, CDKL5, CDKN1C, CDON, CENPE, CENPF, CENPJ, CEP104, CEP120, CEP135, CEP152, CEP290, CEP41, CEP83, CEP89, CHAMP1, CHD1, CHD2, CHD3, CHD4, CHD7, CHD8, CHKB, CHP1, CHRNA4, CIC, CIP2A, CIT, CKAP2L, CLCN4, CLCNKB, CLIC2, CLIP1, CLN3, CLN5, CLN6, CLN8, CLP1, CLPB, CLTC, CLTCL1, CNKSR2, CNNM2, CNTNAP2, COASY, COG1, COG2, COG4, COG5, COG6, COG7, COG8, COL13A1, COL4A1, COL4A2, COL4A3BP, COLEC11, COQ2, COQ4, COQ9, COX10, COX15, COX6B1, CPE, CPS1, CRADD, CRB2, CRBN, CREBBP, CRLF1, CSNK2A1, CSPP1, CSTB, CTBP1, CTCF, CTDP1, CTNNB1, CTNND1, CTNND2, CTSA, CTSD, CTTNBP2, CUBN, CUL4B, CUX2, CWF19L1, CYB5R3, CYP27A1, CYP2U1, D2HGDH, DAG1, DARS2, DBT, DCAF17, DCC, DCHS1, DCPS, DCX, DDC, DDHD2, DDOST, DDX11, DDX3X, DDX59, DEAF1, DENND5A, DEPDC5, DHCR24, DHCR7, DHDDS, DHFR, DHTKD1, DHX30, DIAPH1, DIP2B, DKC1, DLD, DLG3, DLG4, DMD, DMPK, DMRTA2, DNAJC12, DNAJC19, DNM1, DNM1L, DNMT3A, DNMT3B, DOCK6, DOCK7, DOCK8, DOLK, DONSON, DPAGT1, DPH1, DPM1, DPP6, DPYD, DPYS, DST, DVL1, DYM, DYNC1H1, DYRK1A, EBF3, EBP, ECHS1, EDC3, EDNRA, EEF1A2, EFTUD2, EHMT1, EIF2AK3, EIF2S3, EIF4A3, EIF4G1, ELAC2, ELOVL4, ELOVL5, ELP2, EMC1, EMX2, ENTPD1, EP300, EPB41L1, EPG5, ERCC2, ERCC3, ERCC5, ERCC6, ERCC8, ERLIN2, ESCO2, ETFB, ETHE1, EXOC6B, EXOC8, EXOSC2, EXOSC3, EXOSC8, EXT2, EZH2, EZR, FA2H, FAM126A, FAR1, FASN, FAT4, FBN1, FBXL4, FBXO11, FBXO31, FGD1, FGF12, FGF14, FGFR1, FGFR2, FGFR3, FH, FIBP, FIGN, FKRP, FKTN, FLNA, FLVCR1, FMN2, FMR1, FOXG1, FOXP1, FOXP2, FRAS1, FREM2, FRMD4A, FRMPD4, FRRS1L, FTCD, FTO, FTSJ1, FUCA1, GABBR2, GABRA1, GABRB1, GABRB3, GABRD, GAD1, GALE, GALT, GAMT, GATAD2B, GATM, GCDH, GCH1, GCSH, GDI1, GFAP, GFM2, GJA1, GJB1, GJC2, GK, GLB1, GLDC, GLI2, GLI3, GLYCTK, GM2A, GMPPA, GMPPB, GNAO1, GNAS, GNB1, GNB5, GNPAT, GNPTAB, GNS, GPC3, GPHN, GPT2, GRIA3, GRID2, GRIK2, GRIN1, GRIN2A, GRIN2B, GRIN2D, GRIN3B, GRIP1, GRM1, GRN, GSE1, GSS, GTF2H5, GTPBP3, GUSB, HACE1, HAX1, HCCS, HCFC1, HCN1, HDAC4, HDAC6, HDAC8, HECTD1, HECW2, HEPACAM, HERC1, HERC2, HESX1, HEXA, HEXB, HGSNAT, HIST1H1E, HIST1H4C, HIVEP2, HLCS, HMGCL, HNMT, HNRNPH1, HNRNPH2, HNRNPK, HNRNPU, HOXA1, HPD, HPRT1, HRAS, HSD17B10, HSPA9, HSPD1, HUWE1, HYLS1, IARS, IARS2, IBA57, IDS, IDUA, IER3IP1, IFIH1, IFT122, IFT172, IFT81, IGBP1, IGF1, IGF1r, IKBKG, IKKA, IL1RAPL1, IMPA1, INPP4A, INPP5E, INPP5K, IQSEC2, IRF6, ISCA2, ISPD, ITGA7, ITPA, ITPR1, IVD, JAG1, JAM3, JMJD1C, KALRN, KANK1, KANSL1, KAT6A, KAT6B, KATNB1, KCNA2, KCNA4, KCNB1, KCNC1, KCNC3, KCNH1, KCNJ10, KCNJ11, KCNJ6, KCNK9, KCNMA1, KCNQ2, KCNQ3, KCNQ5, KCNT1, KCTD7, KDM1A, KDM5C, KDM6A, KDM6B, KIAA0226, KIAA0586, KIAA1033, KIAA1109, KIAA1279, KIAA2022, KIDINS220, KIF11, KIF14, KIF1A, KIF2A, KIF4A, KIF5C, KIF7, KIRREL3, KLF8, KLHL15, KMT2A, KMT2B, KMT2C, KMT2D, KMT2E, KMT5B, KNL1, KPTN, KRAS, KRBOX4, L1CAM, L2HGDH, LAMA1, LAMA2, LAMC3, LAMP2, LARGE, LARP7, LAS1L, LIAS, LIG4, LINGO1, LINS, LMAN2L, LMNB2, LONP1, LRP2, LRPPRC, LZTFL1, LZTR1, MAB21L2, MAF, MAG, MAGEL2, MAGT1, MAN1B1, MAN2B1, MANBA, MAOA, MAP2K1, MAP2K2, MAPRE2, MARS2, MASP1, MAT1A, MBD5, MBOAT7, MBTPS2, MCCC1, MCCC2, MCOLN1, MCPH1, MDH2, MECP2, MECR, MED12, MED13L, MED17, MED23, MED25, MEF2C, MEIS2, METTL23, MFF, MFSD2A, MFSD8, MGAT2, MICU1, MID1, MID2, MKKS, MKS1, MLC1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MOCS1, MOCS2, MOGS, MPDU1, MPDZ, MPLKIP, MRPL3, MRPS22, MSL3, MTFMT, MTHFR, MTM1, MTOR, MTR, MTRR, MUT, MVK, MYCN, MYH10, MYH9, MYO5A, MYT1L, NAA10, NAA15, NACC1, NADK2, NAGA, NAGLU, NALCN, NANS, NAPB, NARS2, NBEA, NBN, NDE1, NDP, NDST1, NDUFA1, NDUFA11, NDUFA12, NDUFA13, NDUFA2, NDUFAF3, NDUFAF5, NDUFB11, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEB, NECAP1, NEDD4L, NEU1, NF1, NFATC1, NFIA, NFIB, NFIX, NGLY1, NHS, NIPBL, NKX2-1, NLGN3, NLGN4X, NLRP3, NONO, NOS1, NOTCH1, NPC1, NPC2, NPHP1, NR2F1, NRAS, NRXN1, NSD1, NSD2, NSDHL, NSUN2, NTRK1, NUP62, NUS1, NXF5, OAT, OCLN, OCRL, ODC1, OFD1, OGT, OPHN1, ORC1, OSGEP, OTC, OTUD6B, P4HTM, PACS1, PAFAH1B1, PAH, PAK3, PANK2, PANX1, PARP1, PAX1, PAX6, PAX8, PBX1, PC, PCCA, PCCB, PCDH19, PCGF2, PCLO, PCNT, PCYT2, PDE4D, PDHA1, PDP1, PDSS1, PDSS2, PEPD, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGAP1, PGAP2, PGAP3, PGK1, PGM3, PHF6, PHF8, PHGDH, PHIP, PI4KA, PIGA, PIGC, PIGG, PIGL, PIGN, PIGO, PIGT, PIGV, PIGW, PIGY, PIK3CA, PIK3R2, PLA2G6, PLCB1, PLK4, PLP1, PLXND1, PMM2, PMPCA, PNKP, PNP, PNPLA6, POC1A, POGZ, POLG, POLR1D, POLR3A, POLR3B, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PORCN, POU1F1, POU3F2, POU3F3, PPM1D, PPOX, PPP1CB, PPP1R15B, PPP2R1A, PPP2R5B, PPP2R5C, PPP2R5D, PPP3CA, PPT1, PQBP1, PRF1, PRKAR1A, PRMT7, PRODH, PRPS1, PRR12, PRRT2, PRSS12, PSAP, PSAT1, PSPH, PTCH1, PTCHD1, PTDSS1, PTEN, PTPN11, PTPN4, PTRH2, PTRHD1, PTS, PUF60, PUM1, PURA, PUS1, PUS3, PUS7, PVRL1, PYCR1, PYCR2, QARS, QDPR, QRSL1, RAB11B, RAB18, RAB27A, RAB39B, RAB3GAP1, RAB3GAP2, RAB40AL, RAC1, RAD21, RAF1, RAI1, RAP1A, RAP1B, RARB, RARS2, RASA2, RBFOX1, RBM10, RBM28, RBMX, RBPJ, RBSN, RCBTB1, RELN, RERE, REV3L, RFT1, RGS6, RHEB, RIPK4, RIT1, RLIM, RMND1, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF113A, RNF125, ROGDI, RPGRIP1L, RPL10, RPS6KA3, RSPRY1, RTEL1, RTTN, RUSC2, SALL1, SASS6, SATB2, SBDS, SC5D, SCAPER, SCN1A, SCN1B, SCN2A, SCN8A, SCO1, SCO2, SCYL1, SDHA, SEMA3E, SEPSECS, SERAC1, SET, SETBP1, SETD1A, SETD1B, SETD2, SETD5, SF1, SGSH, SHANK2, SHANK3, SHH, SHOC2, SHROOM4, SIK1, SIL1, SIN3A, SIX3, SLC12A6, SLC13A5, SLC16A2, SLC17A5, SLC19A3, SLC1A1, SLC1A2, SLC1A4, SLC25A12, SLC25A15, SLC25A22, SLC2A1, SLC33A1, SLC35A1, SLC35A2, SLC35C1, SLC39A12, SLC39A8, SLC4A4, SLC6A1, SLC6A17, SLC6A3, SLC6A8, SLC7A7, SLC9A1, SLC9A6, SMAD4, SMAD6, SMARCA2, SMARCA4, SMARCB1, SMARCC2, SMARCE1, SMC1A, SMC3, SMG9, SMO, SMOC1, SMPD1, SMS, SNAP25, SNAP29, SNIP1, SNRPB, SNRPN, SNX14, SOBP, SON, SOS1, SOS2, SOX10, SOX11, SOX2, SOX3, SOX5, SPAST, SPATA5, SPECC1L, SPG11, SPG20 SPOCK1, SPRED1, SPTAN1, SPTBN2, SRCAP, SRD5A3, SRPX2, SSR4, ST3GAL3, ST3GAL5, STAG1, STAG2 STAMBP, STIL, STIM1, STRA6, STT3A, STT3B, STX1B, STX3, STXBP1, STXBP5L, STYXL1, SUCLA2, SUCLG1, SUMF1, SUOX, SURF1, SYN1, SYNCRIP, SYNE1, SYNGAP1, SYP, SYT14, SZT2, TAF1, TAF13 TAF2, TAF6, TANC2 TANGO2, TAT, TBC1D20, TBC1D24, TBC1D7, TBCD, TBCE, TBCK, TBL1XR1, TBP, TBR1, TCF20, TCF4, TCF7L2, TCN2 TCTN3, TDP2, TECPR2, TECR, TELO2, TFAP2A, TG, TGDS, TGFBR1, TGFBR2, TGIF1, TH, THOC2, THOC6, THRB, TIMM8A, TINF2, TKT, TLK2, TMCO1, TMEM135, TMEM165, TMEM231, TMEM237, TMEM240, TMEM67, TMEM70 TMLHE, TNIK, TOE1 TP53RK TPI1 TPO, TPP1, TPRKB TRAIP, TRAPPC11, TRAPPC9, TREX1, TRIM32, TRIO, TRIP12, TRIP4, TRMT1 TRMT10A, TRMT10C, TRNT1, TSC1, TSC2, TSEN15, TSEN54, TSHB TSHR, TSPAN7, TTC19, TTC37, TTC8, TTI2, TUBA1A, TUBA8, TUBB, TUBB2B, TUBB3, TUBB4A, TUBG1, TUBGCP4, TUBGCP6, TUSC3, TWIST1, TWIST2, UBA5, UBE2A, UBE3A, UBE3B, UBR1, UBR7, UBTF UNC80, UPB1, UPF3B, UQCRQ, UROC1 USP27X, USP7, USP9X, VAMP2, VLDLR, VPS11, VPS13B, VPS37A, VPS53, VRK1, VWA3B, WAC, WARS2 WDR13, WDR19, WDR26 WDR4 WDR45, WDR62, WDR73, WDR81, WFS1, WWOX, XPA, XPNPEP3, XRCC4, XYLT1, XYLT2, YAP1, YME1L1, YWHAE, YY1, ZBTB16, ZBTB18, ZBTB20, ZBTB24, ZBTB40, ZC3H14, ZC4H2, ZCCHC12, ZCCHC8, ZDHHC15, ZDHHC9, ZEB2, ZFYVE26, ZIC1, ZIC2, ZMYM3, ZMYND11, ZNF148 ZNF292, ZNF407, ZNF41, ZNF526, ZNF592, ZNF674, ZNF711, ZNF81, ZSWIM6

Price  3.190,00

Category:

  • Intellectual developmental disorder with dysmorphic facies and ptosis (OMIM: 617333)