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Enfermedades endocrinas

DEFICIENCIA COMBINADA DE HORMONAS HIPOFISARIAS: 10 genes – Plazos de entrega: 3-4 semanas

GHR, GLI2, HESX1, LHX3, LHX4, OTX2, POU1F1, PROP1, SOX2, SOX3

DIABETES MODY: 18 genes – Plazos de entrega: 3-4 semanas

ABCC8, BLK, CEL, GATA6, GCK, GLUD1, HADH, HNF1A, HNF1B, HNF4A, INS, KCNJ11, KLF11, NEUROD1, PAX4, PDX1, RFX6, WFS1

DIABETES MONOGÉNICA: 60 genes – Plazos de entrega: 3-4 semanas

ABCC8, AIRE, AKT2, ALMS1, BLK, CEL, CISD2, CP, DCAF17, DNAJC3, DYRK1B, EIF2AK3, EIF2B1, EIF2S3, FOXP3, GATA4, GATA6, GCK, GLIS3, GLUD1, HADH, HNF1A, HNF1B, HNF4A, IER3IP1, IL2RA, INS, INSR, ITCH, KCNJ11, KLF11, LRBA, MAFA, MNX1, NEUROD1, NEUROG3, NKX2-2, PAX4, PAX6, PCBD1, PDX1, PIK3R1, POLD1, PPARG, PPP1R15B, PTF1A, RFX6, SLC16A1, SLC19A2, SLC29A3, SLC2A2, STAT1, STAT3, TBC1D4, TRMT10A, UCP2, WFS1, ZBTB20, ZFP57, ZMPSTE24

DIABETES NEONATAL: 39 genes – Plazos de entrega: 3-4 semanas

ABCC8, AIRE, BLK, DOCK8, EIF2AK3, EIF2B1, EIF2S3, FOXP3, GATA4, GATA6, GCK, GLIS3, GLUD1, HNF1A, HNF1B, HNF4A, IER3IP1, IL2RA, INS, INSR, KCNJ11, KLF11, LRBA, MNX1, NEUROD1, NEUROG3, NKX2-2, PAX4, PAX6, PDX1, PLAGL1, PTF1A, RFX6, SLC19A2, SLC2A2, STAT1, STAT3, WFS1, ZFP57

DIABETES Y OBESIDAD: 277 genes – Plazos de entrega: 3-4 semanas

ABCA1, ABCC8, ABCG5, ABCG8, ACAT1, ACSF3, ADCY3, ADRB2, ADRB3, AFF4, AGL, AGRP, AIP, AIRE, AKT2, ALDOA, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ALMS1, ANGPTL3, APOA1, APOA5, APOB, APOC2, APOC3, APOE, AQP2, ARL13B, ARL6, ARMC5, ATP6V0A2, AVP, AVPR2, B4GALT1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BDNF, BLK, C8orf37, CANT1, CARTPT, CC2D2A, CCDC28B, CEL, CEP164, CEP19, CEP290, CETP, CHD2, CISD2, COG1, COG4, COG5, COG6, COG7, COG8, CP, CPE, CREBBP, CUL4B, CYP27A1, DCAF17, DDOST, DHDDS, DNAJC3, DOLK, DPM1, DPM2, DPM3, DYRK1B, EHMT1, EIF2AK3, EIF2B1, EIF2S3, ENO3, ENPP1, EPM2A, FBP1, FOXP3, G6PC, GAA, GATA6, GBE1, GCK, GCKR, GH1, GHR, GHRHR, GHRL, GLI3, GLIS3, GLUD1, GMPPA, GNAS, GNE, GPC3, GPD1, GPIHBP1, GYG1, GYS1, GYS2, H6PD, HADH, HEXA, HMGCL, HMGCS2, HNF1A, HNF1B, HNF4A, HSD11B1, IER3IP1, IFT172, IFT27, IGF1R, INPP5E, INS, INSR, ITCH, KCNJ11, KIF7, KLF11, KMT2C, LAMP2, LARGE1, LAS1L, LDHA, LDLR, LDLRAP1, LEP, LEPR, LIPA, LIPC, LIPE, LMF1, LMNA, LPL, LZTFL1, MAGEL2, MAN1B1, MC3R, MC4R, MCHR1, MEGF8, MGAT2, MKKS, MKRN3, MKS1, MOGS, MPDU1, MPI, MPV17, MRAP2, MTNR1B, MTTP, MYO5A, MYO7A, MYT1L, NDN, NEUROD1, NEUROG3, NGLY1, NHLRC1, NKX2-2, NPHP1, NPHP3, NR0B2, NSD1, NTRK2, OFD1, OXCT1, PAX4, PAX6, PC, PCBD1, PCK1, PCNT, PCSK1, PCSK9, PDE11A, PDE4D, PDX1, PFKM, PGAM2, PGK1, PGM1, PHF6, PHIP, PHKA1, PHKA2, PHKB, PHKG2, PIK3R1, PMM2, PNPLA6, POLD1, POMC, PPARG, PPARGC1B, PPP1R15B, PRKAG2, PRKAR1A, PRMT7, PROM1, PRPH2, PTEN, PTF1A, PYGL, PYGM, PYY, RAB23, RAI1, RBCK1, RDH5, RFT1, RFX6, RHO, RLBP1, RPGRIP1L, RPS6KA3, SDC3, SDCCAG8, SETD2, SH2B1, SIM1, SLC16A1, SLC19A2, SLC29A3, SLC2A2, SLC35A1, SLC35A2, SLC35C1, SNRPN, SPG11, SRD5A3, SSR4, STAT1, STAT3, STT3A, STT3B, TBX3, THOC2, THRA, TMEM165, TMEM67, TRAF3IP1, TRAPPC9, TRIM32, TRMT10A, TTC21B, TTC8, TUSC3, UCP1, UCP2, UCP3, VPS13B, WDPCP, WFS1, XRCC4, XYLT1, ZBTB20, ZFP57, ZMPSTE24, ZNF711

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

HIPERCALCEMIA FAMILIAR: 9 genes – Plazos de entrega: 3-4 semanas

ALPL, AP2S1, CASR, CDC73, CDKN1C, CYP24A1, GNA11, MEN1, PTH1R

HIPERINSULINISMO FAMILIAR: 35 genes – Plazos de entrega: 3-4 semanas

ABCC8, ACAT1, AKT2, AKT3, ALG3, ALG6, CACNA1D, EIF2S3, FBP1, FOXA2, GCK, GLUD1, HADH, HK1, HMGCL, HMGCS2, HNF1A, HNF4A, INS, INSR, KCNJ11, KCNQ1, KDM6A, KMT2D, MPI, OXCT1, PCK1, PCK2, PDX1, PGM1, PMM2, SLC16A1, TRMT10A, UCP2, USH1C

HIPERPARATIROIDISMO: 28 genes – Plazos de entrega: 3-4 semanas

AIP, AIRE, AP2S1, APC, CASR, CDC73, CDKN1A, CDKN1B, CDKN2B, CDKN2C, CHEK2, DICER1, GATA3, GCM2, GNA11, GNAS, HADHA, HADHB, MEN1, NTRK1, PRKAR1A, PTEN, PTH, PTH1R, RET, SOX3, STX16, TBCE

HIPERPLASIA ADRENAL CONGÉNITA (CYP21A2-NEGATIVO): 11 genes – Plazos de entrega: 3-4 semanas

ARMC5, CYP11A1, CYP11B1, CYP11B2, CYP17A1, HSD3B2, PDE11A, PDE8B, POR, PRKAR1A, STAR

HIPOGLUCEMIAS: 155 genes – Plazos de entrega: 3-4 semanas

AAAS, ABCC8, ABCD1, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACAT2, ACSF3, ADK, AGL, AKT2, AKT3, ALDH7A1, ALDOA, ALDOB, ALG12, ALG3, ALG6, AUH, BCKDHA, BCKDHB, BLK, CA5A, CACNA1C, CACNA1D, CDKN1C, COG7, CPT1A, CPT2, CYP7B1, DBH, DBT, DDC, DGUOK, DLD, DMXL2, DOLK, ENO3, ETFA, ETFB, ETFDH, FAH, FBP1, G6PC, GAA, GALE, GALK1, GALT, GBE1, GCDH, GCK, GH1, GHR, GK, GLUD1, GPC3, GYG1, GYS1, GYS2, HADH, HADHA, HADHB, HESX1, HK1, HMGCL, HMGCS2, HNF1A, HNF1B, HNF4A, HRAS, HSD17B10, HSD3B7, INS, INSR, IVD, KCNJ11, KDM6A, KLF11, KMT2D, LAMP2, LDHA, LHX3, LHX4, LRPPRC, MAFA, MCCC1, MCCC2, MLYCD, MPC1, MPI, MPV17, MRAP, MTO1, MTOR, NADK2, NEUROD1, NNT, NR0B1, NR1H4, NR3C1, NSD1, OGDH, OPLAH, OTX2, OXCT1, PAX4, PC, PCCA, PCCB, PCK1, PCK2, PCSK1, PDX1, PFKM, PGAM2, PGM1, PHGDH, PHKA1, PHKA2, PHKB, PHKG2, PMM2, PNPO, POMC, PPP1R15B, PRKAG2, PROP1, PTF1A, PYGL, PYGM, RBCK1, RNF125, SERAC1, SLC16A1, SLC22A5, SLC25A13, SLC25A20, SLC2A2, SLC37A4, SLC52A1, SLC52A2, SLC52A3, SOX2, SOX3, TALDO1, TAZ, TBX19, TFAM, TRMT10A, UCP2, UQCRB, UQCRC2

HIPOGONADISMO HIPOGONADOTROPO/ SINDROME DE KALLMAN: 58 genes – Plazos de entrega: 3-4 semanas

AIRE, ANOS1, AXL, CHD4, CHD7, CYP19A1, DCAF17, DHCR7, DUSP6, ESR1, FEZF1, FGF17, FGF8, FGFR1, FLRT3, FSHB, GLI2, GNRH1, GNRHR, GPC4, HESX1, HS6ST1, IL17RD, KISS1, KISS1R, KLB, LEP, LEPR, LHB, LHCGR, LHX3, LHX4, LMNA, NR0B1, NR5A1, NSMF, OTX2, PCSK1, PLXNA1, POLR3B, POU1F1, PROK2, PROKR2, PROP1, RELN, RNF216, SEMA3A, SEMA3E, SLC29A3, SOX10, SOX2, SOX3, SPRY4, SRY, TAC3, TACR3, WDR11, XRCC4

HIPOPARATIROIDISMO: 25 genes – Plazos de entrega: 3-4 semanas

AIRE, AP2S1, ATP7B, CASR, CHD7, CYP24A1, FAM111A, GATA3, GCM2, GNA11, GNAS, HADHA, HADHB, IRX5, NEBL, PDE4D, PRKAR1A, PTH, PTH1R, SLC34A1, SOX3, STX16, TBCE, TBX1, TBX2

HIPOPLASIA TIROIDEA/ ATIREOSIS/ DISGENESIA TIROIDEA: 33 genes – Plazos de entrega: 3-4 semanas

AP2S1, CASR, DUOX1, DUOX2, DUOXA2, DYRK1A, ELN, FOXE1, GAS1, GLIS3, GNA11, GNAS, IYD, JAG1, KAT6B, KDM6A, KMT2D, NKX2-1, NKX2-5, PAX8, SALL1, SECISBP2, SLC11A2, SLC26A4, SLC5A5, STX16, TBX1, TG, THRA, THRB, TPO, TSHR, TUBB1

HIPOTIROIDISMO Y RESISTENCIA A LAS HORMONAS TIROIDEAS: 39 genes – Plazos de entrega: 3-4 semanas

AIRE, CASR, DUOX2, DUOXA2, FOXE1, FOXP3, GCM2, GLIS3, GNAS, HESX1, IGSF1, IRS4, IYD, KDM6A, KMT2D, LHX3, LHX4, LIG4, NKX2-1, NKX2-5, OTX2, PAX8, POU1F1, PRKAR1A, PROP1, SECISBP2, SLC16A2, SLC26A4, SLC5A5, TBL1X, TG, THRA, THRB, TPO, TRH, TRHR, TSHB, TSHR, UBR1

OBESIDAD MONOGÉNICA: 90 genes – Plazos de entrega: 3-4 semanas

ADCY3, ADRB2, ADRB3, AFF4, AGRP, ALMS1, ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BDNF, C8orf37, CARTPT, CEP164, CEP19, CEP290, CPE, CREBBP, CRTC1, CUL4B, DYRK1B, ENPP1, EP300, ESR1, FBN3, GHRL, GNAS, GPR101, GRIK1, GRPR, HTR2C, IFT172, IFT27, INPP5E, KDM6A, KIF7, KMT2D, LEP, LEPR, LZTFL1, MAGEL2, MC3R, MC4R, MCHR1, MEGF8, MKKS, MKS1, MRAP, MRAP2, NCOA1, NLGN2, NPY, NPY1R, NR0B2, NTRK2, PCSK1, PCSK2, PCSK9, PHF6, PHIP, POMC, PPARG, PPARGC1B, PRMT7, RAB23, RAI1, RPS6KA3, SCLT1, SDC3, SDCCAG8, SETD2, SH2B1, SIM1, TBX3, THRA, TMEM67, TRAPPC9, TRIM32, TTC8, TUB, UCP1, UCP3, VPS13B, WDPCP

PANCREATITIS CRÓNICA HEREDITARIA: 11 genes – Plazos de entrega: 3-4 semanas

APOA5, APOC2, CASR, CFTR, CPA1, CTRC, GPIHBP1, PRSS1, SBDS, SPINK1, UBR1

RAQUITISMO HIPOFOSFATÉMICO FAMILIAR/ HIPOFOSFATASIA: 22 genes – Plazos de entrega: 3-4 semanas

ALPL, CLCN5, CTNS, CYP27B1, CYP2R1, DMP1, EHHADH, ENPP1, FAH, FAM20C, FGF23, FGFR1, GATM, GNAS, KL, NDUFAF6, OCRL, PHEX, SLC2A2, SLC34A1, SLC34A3, VDR

TALLA BAJA: 198 genes – Plazos de entrega: 3-4 semanas

ACAN, ACTB, ACTG1, ADAMTS10, AGPS, ALMS1, ALPL, ANKRD11, ARID1A, ARID1B, ARSB, ARSE, ATR, ATRIP, ATRX, B3GAT3, BCS1L, BLM, BMP2, BRAF, BRD4, BRF1, BTK, CBL, CCDC8, CDC6, CDT1, CENPJ, CEP152, CEP63, COL10A1, COL11A1, COL11A2, COL1A1, COL1A2, COL27A1, COL2A1, COL9A1, COL9A2, COL9A3, COLEC11, COMP, CREBBP, CRIPT, CRTAP, CTSK, CUL7, DHCR7, DNA2, DVL1, EBP, EP300, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, EVC, EVC2, EXT1, EXT2, FANCA, FANCC, FANCG, FBN1, FGD1, FGF23, FGFR3, FLNB, FN1, GALNS, GH1, GHR, GHRHR, GHSR, GLB1, GLI2, GLI3, GNAS, GNPAT, GPC3, GUSB, HDAC8, HESX1, HRAS, HSPG2, IDS, IDUA, IGF1, IGF1R, IGF2, IGFALS, IHH, INSR, IRS1, KDM6A, KMT2D, KRAS, LARP7, LFNG, LHX3, LHX4, LIFR, LIG4, LMNA, LTBP2, LTBP3, LZTR1, MAP2K1, MAP2K2, MASP1, MATN3, MCM5, NBN, NF1, NIN, NIPBL, NME1, NOTCH2, NPPC, NPR2, NRAS, OBSL1, ORC1, ORC4, ORC6, OTX2, P3H1, PACS1, PCNT, PDE4D, PEX7, PHEX, PIEZO2, PIK3R1, PITX2, PLK4, POC1A, POP1, POU1F1, PPP3CA, PRKAR1A, PRMT7, PROKR2, PROP1, PSPH, PTH1R, PTPN11, PUF60, RAD21, RAF1, RAI1, RASA2, RBBP8, RIT1, ROR2, RPS6KA3, RRAS, RRAS2, RTTN, RUNX2, SATB2, SHOC2, SHOX, SLC26A2, SMARCA2, SMARCA4, SMARCAL1, SMARCB1, SMARCE1, SMC1A, SMC3, SOS1, SOS2, SOX11, SOX2, SOX3, SOX9, SPRED1, SRCAP, STAG1, STAG2, STAT5B, TALDO1, TBCE, TBX19, TBX2, TBX3, THRB, TOP3A, TRAPPC2, TRIM37, TRMT10A, TRPS1, UBE3B, WNT5A, WRN, XRCC4

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