DESCRIPCIÓN
Este panel analiza variantes en más de 600 genes relacionados con Síndrome de Rett, Esclerosis tuberosa, Síndrome Smith-Lemli-Opitz, Síndrome de Timothy, Síndrome de Asperger, Síndrome de Angelman, Síndrome Beckwith-Wiedemann, Síndrome Brugada, entre otros.
GENES
AARS, ABCC8, ABCD1, ACADM, ACADS, ACOX1, ACSL4, ACTA1, ACTB, ADD3, ADK, ADNP, ADSL, AHCY, AHDC1, AHI1, AIMP1, AKT1, AKT3, ALDH18A1, ALDH5A1, ALDH6A1, ALG1, ALG11, ALG13, ALG2, ALG3, ALG6, ALMS1, AMT, ANKRD11, AP1S2, AP4B1, AP4M1, AP4S1, APP, AR, ARFGEF2, ARID1B, ARL13B, ARL6, ARX, ASL, ASPA, ASTN2, ASXL3, ATP1A3, ATPAF2, ATR, ATRIP, ATRX, B3GALT6, B4GALT1, B4GALT7, B9D1, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCAP31, BCL11A, BCOR, BCR, BCS1L, BMP4, BRAF, BRAT1, BRCC3, BRF1, BRIP1, BUB1B, C12orf57, C2CD3, C5orf42, CACNA1C, CACNA1H, CADM1, CAMKMT, CAMTA1, CASK, CBL, CBS, CC2D1A, CC2D2A, CCDC22, CD96, CDC42, CDC6, CDCA7, CDK13, CDK5, CDKL5, CDKN1C, CENPE, CENPJ, CEP104, CEP120, CEP152, CEP164, CEP290, CEP41, CEP57, CHAMP1, CHD2, CHD7, CHMP1A, CHRNA7, CHST14, CLP1, CLPB, CNOT3, CNTN4, CNTN6, CNTNAP2, CNTNAP5, COG1, COG4, COG6, COG7, COL11A2, COL2A1, COL4A1, COLEC11, COMT, COQ9, COX7B, CPLANE1, CRBN, CREBBP, CRIPT, CRKL, CSNK2A1, CSPP1, CTDP1, CTNNB1, CTNND2, CTSA, CUL4B, CXCR3, D2HGDH, DAG1, DDOST, DDX11, DEAF1, DHCR24, DHCR7, DHFR, DIAPH3, DIS3L2, DLG3, DLGAP2, DNMT3B, DOCK6, DOCK7, DPAGT1, DPH1, DPM1, DPM2, DPP10, DPP6, DPYD, DUOX2, DYM, DYNC1H1, DYRK1A, EBF3, EDNRB, EFNB1, EFTUD2, EGF, EHMT1, EIF2AK3, EIF2S3, ELOVL4, ELP2, EMC1, EN2, EP300, EPG5, ERCC1, ERCC2, ERCC5, ERCC6, ERMARD, EXT2, EYA1, FABP5, FABP7, FAM111A, FANCA, FANCL, FANCM, FAR1, FBXL4, FBXO40, FGFR1, FGFR2, FGFR3, FKRP, FKTN, FLI1, FLNA, FMR1, FOXG1, FOXP1, FRMPD4, FTO, FTSJ1, FUCA1, GABRD, GABRG2, GAD1, GALE, GAMT, GATAD2B, GBA, GFER, GJA1, GK, GLDC, GLI2, GLI3, GLRA2, GNE, GNPAT, GNPTAB, GORAB, GPC3, GPC4, GRIN2A, GRIN2B, GRIP1, GRPR, HADHB, HDAC4, HDAC8, HECW2, HELLS, HERC1, HESX1, HEXA, HIBCH, HIRA, HLCS, HMGA2, HNF1B, HNRNPH2, HNRNPK, HOXA1, HPRT1, HRAS, HSD17B4, HUWE1, IDH2, IDUA, IFIH1, IFT140, IGF1, IGF1R, IGF2, IL1RAPL1, INPP5E, INPP5K, INS, INSR, IQSEC2, ITCH, ITPR1, IYD, KANSL1, KARS, KAT6A, KAT6B, KCNH1, KCNJ11, KCNJ2, KCNJ6, KCNMA1, KCNQ2, KDM5C, KDM6A, KIAA0586, KIF1A, KIF1BP, KIF2A, KIF7, KMT2A, KMT2D, KPTN, KRAS, L1CAM, LAMB1, LHX3, LHX4, LIG4, LMNB1, LRP2, LRPPRC, LZTFL1, MAGEL2, MAN1B1, MAN2B1, MAP2K1, MAP2K2, MAPK1, MBD1, MBD3, MBD4, MBTPS2, MCOLN1, MDGA2, MECP2, MED12, MED13L, MEF2C, METTL23, MGAT2, MGP, MID1, MID2, MITF, MKKS, MKS1, MMACHC, MNX1, MOGS, MPC1, MPDU1, MPL, MTHFR, MTOR, MTRR, MVK, NAA10, NAGA, NALCN, NANS, NDE1, NDN, NEU1, NF1, NHS, NIPBL, NKX2-1, NKX2-5, NLGN1, NLGN3, NLGN4X, NLRP3, NONO, NOS1AP, NPHP1, NPHP3, NR0B1, NR2F1, NRAS, NRXN1, NRXN2, NSD1, NSDHL, OCRL, OFD1, OPA3, OPHN1, P4HB, PACS1, PAFAH1B1, PAM16, PAX1, PAX6, PAX8, PCDH10, PCDH19, PCDH9, PCLO, PCNA, PCNT, PDE4D, PDE6D, PDHA1, PDP1, PDZD4, PEPD, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGAP1, PGAP3, PIGA, PIGN, PIGT, PIGW, PIGY, PIK3CA, PIK3R2, PITX2, PLA2G6, PLK4, PLP1, PMM2, PNKP, POC1A, POGZ, POLR1C, POMGNT1, POMT1, POU1F1, PPM1B, PPP1R3F, PPP2R1A, PQBP1, PREPL, PROP1, PTCH1, PTCHD1, PTEN, PTPN11, PTRH2, PTS, PUF60, PYCR1, PYCR2, QDPR, RAB39B, RAB3GAP1, RAB3GAP2, RAD21, RAF1, RAI1, RARS2, RBBP8, RDH11, RFT1, RIMS3, RNASET2, RNF135, RNF168, ROR2, RPGRIP1L, RPL10, RPS6KA3, RTEL1, SATB2, SC5D, SCN1A, SCN1B, SCN2A, SCN8A, SEC23A, SEMA5A, SERAC1, SETBP1, SETD2, SETD5, SH2B1, SH3KBP1, SHANK2, SHANK3, SHH, SHOX, SIL1, SIM1, SIX3, SKI, SLC12A5, SLC12A6, SLC13A5, SLC16A2, SLC17A5, SLC19A2, SLC25A1, SLC26A4, SLC2A1, SLC35A2, SLC35C1, SLC39A8, SLC3A1, SLC5A5, SLC6A1, SLC6A17, SLC6A8, SLC9A6, SLC9A9, SMAD4, SMARCE1, SMC1A, SMC3, SNAP29, SNIP1, SNRPN, SNX14, SOBP, SOS1, SOS2, SOX10, SOX11, SOX2, SOX3, SOX5, SPECC1L, SRCAP, SSR4, STAMBP, STRA6, STS, STT3A, STT3B, STXBP1, SUMF1, SUOX, SURF1, SYN1, SYNGAP1, SZT2, TBC1D24, TBCK, TBL1XR1, TBR1, TBX1, TBX2, TBX4, TCF12, TCF20, TCF4, TCOF1, TCTN1, TCTN2, TECPR2, TFAP2B, TG, TGDS, TGFBR2, THOC6, TMEM138, TMEM165, TMEM216, TMEM231, TMEM237, TMEM67, TMEM70, TPO, TRAPPC9, TRIM32, TRIP12, TSC1, TSC2, TSEN2, TSEN34, TSEN54, TSHR, TSPAN7, TTI2, TUBB, TUBB2A, TUBB2B, TUBB3, TUBG1, TUBGCP4, TWIST1, TWIST2, UBE3A, UNC80, UQCC2, UROD, USB1, USP9X, VIPAS39, VPS13B, VPS37A, VRK1, WAC, WDR45, WDR81, WNK3, WNT5A, YWHAE, ZBTB24, ZC4H2, ZEB2, ZIC1, ZIC2, ZMYND11, ZNF41, ZNF423.
Pedir panel