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Enfermedades reproductivas y urogenitales

DISGENESIA GONADAL 46,XX: 9 genes – Plazos de entrega: 3-4 semanas

BMP15, ESR2, FSHR, MCM9, MRPS22, NR5A1, NUP107, PSMC3IP, SOHLH1

DISGENESIA GONADAL 46,XY: 16 genes – Plazos de entrega: 3-4 semanas

AKR1C2, AKR1C4, AR, ARX, CBX2, DHCR7, DHH, DHX37, DMRT1, MAP3K1, NR0B1, NR5A1, SOX9, SRY, WT1, ZFPM2

FALLO OVÁRICO PRECOZ: 59 genes – Plazos de entrega: 3-4 semanas

AARS2, AIRE, ATM, BLM, BMP15, BMPR1B, CLPP, CYP17A1, CYP19A1, CYP21A2, DIAPH2, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ESR1, FANCA, FANCC, FANCG, FGFR1, FIGLA, FMR1, FOXL2, FSHB, FSHR, GALT, GDF9, GNAS, GNRHR, HARS2, HFM1, HSD17B4, KISS1, KISS1R, LARS2, LHB, LHCGR, LMNA, MCM8, MCM9, NBN, NOBOX, NOG, NR5A1, PGRMC1, POF1B, POLG, POR, PROK2, PROKR2, PSMC3IP, SEMA3A, SOHLH1, STAG3, STAR, TAC3, TACR3, WDR11, WT1

GENITALES AMBIGUOS: 105 genes – Plazos de entrega: 3-4 semanas

AKR1C2, AKR1C4, AMH, AMHR2, ANOS1, AR, ARX, ATRX, B3GLCT, BCOR, BMP4, CCNQ, CDKN1C, CEP41, CHD4, CHD7, CREBBP, CYB5A, CYP11A1, CYP11B1, CYP17A1, CYP19A1, DHCR24, DHCR7, DHH, DMRT1, DNMT3B, DYNC2H1, ERCC3, ESCO2, FAT4, FEZF1, FGF8, FGFR1, FGFR2, FIG4, FRAS1, FREM2, FSHB, GATA4, GNRHR, GRIP1, HCCS, HOXA13, HSD17B3, HSD17B4, HSD3B2, ICK, IL17RD, IRF6, KISS1R, LHB, LHCGR, LMNA, MAMLD1, MAP3K1, MAPRE2, MKKS, MKRN3, MKS1, NEK1, NR0B1, NR2F2, NR5A1, NSMF, OGT, OPHN1, POR, PROK2, PROKR2, PTPN11, RERE, RIPK4, ROR2, RPL10, RSPO1, SALL1, SAMD9, SCARF2, SEMA3A, SETBP1, SOS1, SOX10, SOX2, SOX3, SOX9, SPECC1L, SRD5A2, SRY, STAR, TAC3, TACR3, TBX15, TCTN3, TSPYL1, TWIST2, UBR1, WDR11, WDR60, WNT4, WNT5A, WNT7A, WT1, WWOX, ZFPM2

HIDROPS/HIDROPESIA FETAL (HYDROPS FETALIS): 180 genes – Plazos de entrega: 3-4 semanas

ACAD9, ADA2, AGGF1, AHCY, ALG1, ALG12, ALG8, ALG9, ARSB, ASAH1, BRAF, BSND, CALCRL, CANT1, CARS2, CASP10, CBL, CCBE1, CDAN1, CELSR1, CHD7, CHRNA1, CHRND, CHRNG, CLCNKA, CLCNKB, COG6, COL11A1, COL1A1, COL1A2, COL2A1, CTSA, DHCR24, DHCR7, DNAH9, DYNC2H1, EBP, ENPP1, EPB41, EPHB4, FAS, FASLG, FAT4, FGFR3, FH, FIG4, FLNB, FLT4, FOXC2, FOXP3, FRAS1, FREM2, G6PD, GAA, GALC, GALNS, GATA1, GBA, GBE1, GJA1, GLA, GLB1, GLE1, GLUL, GNPTAB, GRIP1, GUSB, GYPC, HADH, HADHA, HADHB, HBA1, HBA2, HBZ, HRAS, IDUA, IFT80, KAT6B, KCNJ1, KCNJ2, KDM6A, KIF11, KIF23, KLF1, KLHL40, KMT2D, KRAS, LARS2, LBR, LIPA, LZTR1, MAP2K1, MAP2K2, MGAT2, MID1, MVK, MYH3, MYOM1, NEB, NEK1, NEU1, NEXN, NF1, NPC1, NPC2, NRAS, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHGDH, PIEZO1, PIGA, PKLR, PMM2, PRKCD, PSAT1, PTH1R, PTPN11, RAF1, RASA1, RASA2, RASGRP1, RIT1, RPL11, RPL15, RPL26, RPL27, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS27, RPS28, RPS29, RPS7, RRAS, RRAS2, RYR1, SCN5A, SEC23B, SF3B4, SHOC2, SLC12A1, SLC17A5, SLC22A5, SLC26A2, SMPD1, SOS1, SOS2, SOX18, SPRED1, SPTA1, SPTB, STAT3, SUMF1, SUZ12, TALDO1, TAZ, TRIP11, TSR2, UROS, VEGFC, WAC, WDR35, WNT7A, ZEB2

HIPOSPADIAS FAMILIAR: 73 genes – Plazos de entrega: 3-4 semanas

AR, ARX, ATF3, ATRX, B3GLCT, BCOR, BMP4, BMP7, BNC2, CDKN1C, CREBBP, CUL7, CYP11A1, DHCR7, DNMT3B, EFNB1, EPG5, ESCO2, EVC, EVC2, FAT4, FBXL4, FGF10, FGF8, FGFR1, FGFR2, FGFR3, FIG4, FLNA, FRAS1, FREM2, GATA4, GLI3, GNRHR, GPC3, GRIP1, HBA1, HCCS, HNF1B, HOXA13, HOXA4, HOXB6, HSD17B3, HSD3B2, IRF6, MAMLD1, MAP3K1, MED12, MID1, MKKS, NR5A1, PCNT, PDE4D, PEX1, PITX2, POR, PTDSS1, PTPN11, RBBP8, SALL1, SETBP1, SOX2, SPECC1L, SRD5A2, TMEM70, TP63, UBR1, WDR11, WDR35, WNT7A, WT1, ZEB2, ZFPM2

INFERTILIDAD FEMENINA: 311 genes – Plazos de entrega: 3-4 semanas

AARS2, AIRE, AKR1C4, AMH, AMHR2, ANOS1, AR, ARL13B, ARL6, ARX, ATM, ATP6V0A4, ATRX, AURKC, AXL, B3GLCT, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCOR, BLM, BMP15, BMP4, BMPR1B, BNC2, CASR, CATSPER1, CBX2, CC2D2A, CCDC103, CCDC28B, CCDC39, CCDC40, CDKN1C, CEP164, CEP290, CEP41, CFAP298, CFTR, CHD4, CHD7, CLPP, CREBBP, CUL4B, CUL7, CYB5A, CYP11A1, CYP11B1, CYP17A1, CYP19A1, CYP21A2, DAZL, DHCR24, DHCR7, DHH, DHX37, DIAPH2, DMRT1, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH11, DNAH5, DNAH9, DNAI1, DNAI2, DNAL1, DUOX1, DUOX2, DUOXA2, DUSP6, DYNC2H1, EFNB1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ENPP1, EPG5, ERCC6, ESCO2, ESR1, ESR2, EVC, EVC2, F2, F5, FANCA, FANCC, FANCG, FANCM, FAT4, FBXL4, FEZF1, FGF10, FGF17, FGF8, FGFR1, FGFR2, FGFR3, FIG4, FIGLA, FLNA, FLRT3, FMR1, FOXE1, FOXJ1, FOXL2, FRAS1, FREM2, FSHB, FSHR, GALT, GATA4, GCM2, GDF9, GHR, GLI3, GLIS3, GNAS, GNRH1, GNRHR, GPC3, GRIP1, HARS2, HBA1, HCCS, HESX1, HEXA, HFE, HFM1, HNF1B, HOXA13, HS6ST1, HSD17B3, HSD17B4, HSD3B2, HUWE1, IFT172, IFT27, IGSF1, IL17RD, INHA, INPP5E, INSL3, IRF6, IRS4, IYD, KHDC3L, KIF7, KISS1, KISS1R, LARS2, LEP, LEPR, LHB, LHCGR, LHX3, LHX4, LHX8, LMNA, LZTFL1, MAMLD1, MAP3K1, MCM8, MCM9, MED12, MID1, MKKS, MKS1, MMP13, MRPS22, MSH5, MTHFR, MYO7A, NBN, NEK1, NKX2-1, NKX2-5, NLRP2, NLRP5, NLRP7, NME8, NOBOX, NOG, NPHP1, NPHP3, NR0B1, NR0B2, NR3C1, NR5A1, NSMF, NUP107, OFD1, OPHN1, OTX2, PADI6, PAX6, PAX8, PCNT, PCSK1, PDE4D, PEX1, PGRMC1, PHF6, PITX2, PLCZ1, PMM2, PNPLA6, POF1B, POLG, POLR3B, POMC, POR, POU1F1, POU5F1, PPARG, PRLR, PROC, PROK2, PROKR2, PROM1, PROP1, PROS1, PRPH2, PSMC3IP, PTDSS1, PTPN11, RBBP8, RCBTB1, RDH5, RECQL4, RHO, RIPK4, RLBP1, RNF216, ROR2, RPGRIP1L, RPL10, RSPO1, SALL1, SAMD9, SDCCAG8, SECISBP2, SEMA3A, SEMA3E, SERPINC1, SERPINE1, SETBP1, SLC26A4, SLC5A5, SMC1B, SOHLH1, SOS1, SOX10, SOX2, SOX3, SOX9, SPAG1, SPECC1L, SPRY4, SRD5A2, SRY, STAG3, STAR, SYCP3, TAC3, TACR3, TBL1X, TBX15, TG, TGFBR3, THBD, THRA, THRB, TLE6, TMEM67, TMEM70, TP63, TPO, TRAF3IP1, TRH, TRHR, TRIM32, TRIP13, TSHB, TSHR, TSPYL1, TTC21B, TTC8, TWIST2, TWNK, UBR1, USP9Y, WDPCP, WDR11, WDR35, WNT4, WRN, WT1, WWOX, ZMYND10, ZP1

INFERTILIDAD MASCULINA: 318 genes – Plazos de entrega: 3-4 semanas

ADCY10, AIRE, AK7, AKR1C4, AMH, AMHR2, ANOS1, AR, ARL13B, ARL6, ARX, ATM, ATP6V0A4, ATRX, AURKC, AXL, B3GLCT, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCOR, BMP15, BMP4, BNC2, BPY2, CASR, CATSPER1, CATSPER2, CBX2, CC2D2A, CCDC103, CCDC28B, CCDC39, CCDC40, CDKN1C, CDY1, CDY2A, CEP164, CEP290, CEP41, CFAP298, CFTR, CHD4, CHD7, CREBBP, CUL4B, CUL7, CYB5A, CYP11A1, CYP11B1, CYP17A1, CYP19A1, CYP21A2, DAZ1, DAZ2, DAZ3, DAZ4, DCAF17, DDX25, DDX3Y, DHCR24, DHCR7, DHH, DMC1, DMRT1, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH1, DNAH11, DNAH5, DNAH7, DNAH9, DNAI1, DNAI2, DNAL1, DPY19L2, DRC1, DUOX1, DUOX2, DUOXA2, DUSP6, DYNC2H1, E2F1, EFNB1, ENPP1, EPG5, ESCO2, EVC, EVC2, FANCA, FANCM, FAT4, FBXL4, FEZF1, FGF10, FGF17, FGF8, FGFR1, FGFR2, FGFR3, FIG4, FKBP6, FLNA, FLRT3, FMR1, FOXE1, FOXJ1, FOXL2, FRAS1, FREM2, FSHB, FSHR, GALNTL5, GATA4, GCM2, GHR, GLI2, GLI3, GLIS3, GNAS, GNRH1, GNRHR, GPC3, GRIP1, HBA1, HCCS, HESX1, HEXA, HFE, HNF1B, HOXA13, HS6ST1, HSD17B3, HSD17B4, HSD3B2, HSFY1, HUWE1, IFT172, IFT27, IGSF1, IL17RD, INPP5E, INSL3, IRF6, IRS4, IYD, KDM5D, KHDC3L, KIF7, KISS1, KISS1R, KLB, KLHL10, LEP, LEPR, LHB, LHCGR, LHX3, LHX4, LMNA, LRRC6, LZTFL1, MAMLD1, MAP3K1, MCM9, MED12, MID1, MKKS, MKS1, MLH3, MSH4, MSH5, MYO7A, NANOS1, NEK1, NKX2-1, NKX2-5, NLRP14, NME8, NPAS2, NPHP1, NPHP3, NR0B1, NR0B2, NR3C1, NR5A1, NSMF, OFD1, OPHN1, OTX2, PANK2, PAX6, PAX8, PCNT, PCSK1, PDE4D, PEX1, PHF6, PICK1, PITX2, PKD1, PLCZ1, PLK4, PNPLA6, POLR3B, POMC, POR, POU1F1, PPARG, PRM2, PROK2, PROKR2, PROM1, PROP1, PRPH2, PRY, PRY2, PSMC3IP, PTDSS1, PTPN11, RAD21L1, RBBP8, RBMY1A1, RDH5, RHO, RIPK4, RLBP1, RNF212, RNF216, ROR2, RPGRIP1L, RPL10, RPS4Y2, RSPH1, RSPH4A, RSPH9, RSPO1, SALL1, SAMD9, SDCCAG8, SECISBP2, SEMA3A, SEMA3E, sep-12, SETBP1, SLC26A4, SLC26A8, SLC29A3, SLC5A5, SLC9A3, SOHLH1, SOS1, SOX10, SOX2, SOX3, SOX8, SOX9, SPAG1, SPATA16, SPECC1L, SPEF2, SPO11, SPRY4, SRD5A2, SRY, STAG3, STAR, SYCP3, TAC3, TACR3, TAF4B, TBL1X, TBX15, TEX14, TG, THRA, THRB, TLE6, TMEM67, TMEM70, TP63, TPO, TRAF3IP1, TRH, TRHR, TRIM32, TRIM37, TSHB, TSHR, TSPYL1, TTC21B, TTC8, TWIST2, UBR1, USP26, USP9Y, UTP14C, WDPCP, WDR11, WDR35, WDR66, WNT4, WT1, WWOX, XKRY, XRCC2, ZMYND10, ZMYND15, ZP1, ZPBP

TRASTORNOS DEL DESARROLLO SEXUAL: 303 genes – Plazos de entrega: 3-4 semanas

AGPAT2, AIRE, AKR1C2, AKR1C4, ALMS1, ALX4, AMH, AMHR2, ANOS1, AR, ARID1B, ARL6, ARX, ATF3, ATR, ATRX, B3GLCT, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCOR, BLM, BMP15, BMP4, BMP7, BMPR1B, BNC2, BRAF, BRCC3, BRWD3, BSCL2, BUB1B, C8orf37, CBX2, CCNQ, CD96, CDKN1C, CEP290, CEP41, CFTR, CHD4, CHD7, CHRM3, CKAP2L, CLPP, CREBBP, CUL4B, CUL7, CYB5A, CYP11A1, CYP11B1, CYP17A1, CYP19A1, CYP21A2, DCAF17, DDX3Y, DHCR24, DHCR7, DHH, DHX37, DIAPH2, DMRT1, DNMT3B, DOCK8, DUSP6, DVL1, DYNC2H1, EBP, EFNB1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EPG5, ERCC3, ERCC6, ERCC8, ESCO2, ESR1, ESR2, EVC, EVC2, FAT4, FBXL4, FEZF1, FGD1, FGF10, FGF17, FGF8, FGFR1, FGFR2, FGFR3, FIG4, FIGLA, FLNA, FLRT3, FMR1, FOXL2, FRAS1, FREM2, FSHB, FSHR, GATA1, GATA4, GHR, GK, GLI3, GNAS, GNRH1, GNRHR, GPC3, GPC6, GRIP1, H6PD, HARS2, HBA1, HCCS, HDAC8, HESX1, HFE, HNF1B, HOXA13, HOXA4, HOXB6, HOXD13, HPRT1, HS6ST1, HSD11B1, HSD17B3, HSD17B4, HSD3B2, ICK, IGSF1, IL17RD, INPP5E, INSL3, INSR, IRF6, IRX5, KAT6B, KDM5C, KDM5D, KIF7, KISS1, KISS1R, KL, KRAS, LARS2, LEP, LEPR, LHB, LHCGR, LHX1, LHX3, LHX4, LIG4, LMNA, LZTFL1, MAMLD1, MAP2K1, MAP3K1, MAPRE2, MBTPS2, MCM9, MECP2, MED12, MID1, MKKS, MKRN3, MKS1, MSH5, MTM1, NAA10, NBN, NEK1, NOBOX, NOTCH2, NR0B1, NR2F2, NR3C1, NR5A1, NRAS, NSDHL, NSMF, OCRL, OFD1, OGT, OPHN1, ORC1, OTX2, PAPSS2, PAX2, PCNT, PCSK1, PDE4D, PEX1, PEX12, PEX14, PEX2, PEX26, PEX3, PEX5, PEX6, PHF6, PITX2, PMM2, POF1B, POLG, POLR3A, POLR3B, POR, POU1F1, PRKAR1A, PROK2, PROKR2, PROP1, PSMC3IP, PTDSS1, PTPN11, RAB23, RAB3GAP2, RAB40AL, RAF1, RBBP8, RECQL4, RERE, RET, RIPK4, RNF216, ROR2, RPL10, RSPO1, RXFP2, SALL1, SAMD9, SCARF2, SDCCAG8, SEMA3A, SEMA3E, SETBP1, SF3B4, SHBG, SLC29A3, SLC39A4, SMARCA2, SMS, SOHLH1, SOS1, SOX10, SOX2, SOX3, SOX9, SPECC1L, SPRY4, SRD5A2, SRY, STAG3, STAR, STK11, STRA6, TAC3, TACR3, TALDO1, TBCE, TBX15, TBX3, TCTN3, TMEM67, TMEM70, TNK2, TP63, TRIM32, TSHR, TSPYL1, TTC8, TWIST2, TWNK, UBR1, UPK3A, USP26, USP9Y, VAMP7, WDPCP, WDR11, WDR35, WDR60, WNT3, WNT4, WNT5A, WNT7A, WNT9B, WT1, WWOX, ZBTB16, ZEB2, ZFPM2

BUSCADOR POR ENFERMEDAD O GEN