Otras especialidades
¿Qué son los paneles de genes?
Diagnóstico integral
Los paneles de genes son, hoy en día, una valiosa herramienta de diagnóstico porque analizan simultáneamente todos los genes identificados hasta el momento asociados a una enfermedad.
Diseño basado en evidencia
Nuestros paneles fueron diseñados en función de revisiones bibliográficas, bases de datos (HGMD y ClinVar), literatura actualizada y la demanda de los profesionales médicos.
Tecnología avanzada
Todos los paneles incluyen la secuenciación completa de los exones por NGS y están validados para detectar las CNV.
Análisis experto
Un equipo de especialistas en bioinformática, que contempla la historia clínica de cada paciente y sus antecedentes familiares, realiza la revisión de los datos.
Alta cobertura
Los genes difíciles de secuenciar están cubiertos con alta calidad, lo que permite un verdadero impacto diagnóstico en casos de pacientes difíciles.
Estándares internacionales
El análisis bioinformático y el reporte de variantes se realizan siguiendo recomendaciones internacionales (ACMG); esto asegura la validez clínica del informe.
Nuestros paneles de Otras especialidades
Cómo trabajamos
Secuenciación completa de exones (NGS)
Análisis bioinformático personalizado
Revisión por especialistas según ACMG
Informe clínico validado
Paneles avanzados en el diagnóstico médico moderno
Actualmente, los paneles están avanzando en el diagnóstico de enfermedades de una gran variedad de áreas de la medicina: dermatología, oftalmología, malformaciones, desórdenes metabólicos y nefrología entre otras.
Dermatología
Oftalmología
Malformaciones
Desórdenes metabólicos
Nefrología
Conocer la variante o las variantes genéticas que originan una enfermedad en un paciente o grupo familiar permite asegurar que los afectados reciban el diagnóstico y el tratamiento apropiados, predecir el curso de la enfermedad y analizar el riesgo de recurrencia en la familia.
Panel Síndrome Urémico Hemolítico – 9 genes
ADAMTS13, C3, CD46, CFB, CFH, CFHR5, CFI, DGKE, THBD
Cerrar Panel Sindrome de Talla Baja – 99 genes
ACTB, ACTG1, AMMECR1, ARCN1, ATR, B3GAT3, BCS1L, BLM, BMP2, BRAF, CBL, CCDC8, CDC45, CDC6, CDT1, CENPJ, CEP152, CEP63, COL27A1, CREBBP, CUL7, DHCR7, DONSON, EP300, FGD1, FGFR3, FN1, GH1, GHR, GHRHR, GHSR, GLI2, GNAS, HDAC8, HESX1, HRAS, IDUA, IGF1, IGF1R, IGFALS, INSR, IRS1, KRAS, LARP7, LFNG, LHX3, LHX4, LZTR1, MAP2K1, MAP2K2, NIPBL, NOTCH2, NRAS, OBSL1, ORC1, ORC4, ORC6, OSGEP, OTX2, PCNT, PISD, PITX2, POC1A, POP1, POU1F1, PPP3CA, PRMT7, PROP1, PTPN11, PUF60, RAD21, RAF1, RALA, RASA2, RBBP8, RIT1, RRAS, RTTN, SGMS2, SHOC2, SHOX, SMARCA2, SMARCE1, SMC1A, SMC3, SOS1, SOX11, SOX2, SOX3, SRCAP, STAT5B, TALDO1, TBX19, TBX2, TBX3, TOP3A, TRIM37, TRMT10A, XRCC4
Cerrar Panel de Macrocefalia / Sobrecrecimiento – 47 genes
AKT1, AKT3, ASPA, BRWD3, CCND2, CDKN1C, CHD8, CUL4B, DHCR24, DIS3L2, DNMT3A, EED, EIF2B5, EZH2, GFAP, GLI3, GPC3, GPSM2, GRIA3, HEPACAM, HUWE1, KDM1A, KIAA0196, KIF7, KPTN, L1CAM, MED12, MLC1, MPDZ, NFIB, NFIX, NSD1, OFD1, PIGA, PIK3CA, PIK3R2, PTCH1, PTEN, RAB39B, RNF135, SETD2, SYN1, TMEM94, TSC1, TSC2, UPF3B, ZBTB20
Cerrar Panel Osteogénesis Imperfecta y Frag. Osea – 67 gene
ALPL, ANO5, ASCC1, B3GAT3, B4GALT7, BMP1, CA2, CLCN5, CLCN7, COL1A1, COL1A2, CREB3L1, CRTAP, CTNS, CTSK, CYP27B1, CYP2R1, DMP1, ENPP1, FAH, FAM20C, FAM46A, FGF23, FGFR1, FKBP10, GNAS, GORAB, IFITM5, LRP5, LRRK1, MBTPS2, MESDC2, NBAS, NOTCH2, NTRK1, OCRL, OSTM1, P3H1, P4HB, PHEX, PLOD2, PLS3, PPIB, SEC24D, SERPINF1, SERPINH1, SFRP4, SGMS2, SLC29A3, SLC2A2, SLC34A1, SLC34A3, SNX10, SP7, SPARC, SUCO, TAPT1, TCIRG1, TMEM38B, TNFRSF11A, TNFRSF11B, TNFSF11, TRIP4, VDR, WNT1, WNT3A, XYLT2
Cerrar Panel Enfermedad de Hirschsprung – 15 genes
BDNF, CELSR3, EDN3, EDNRB, KIF1BP, L1CAM, MITF, NRG1, NRTN, PAX3, PHOX2B, RET, RMRP, SOX10, ZEB2
Cerrar Panel Síndrome de Usher – 21 genes
ABHD12, ADGRV1, ARSG, CDH23, CEP250, CEP78, CIB2, CLRN1, DFNB31, ESPN, HARS, MYO7A, PCDH15, PDZD7, PEX1, PEX6, PRPS1, TUBB4B, USH1C, USH1G, USH2A
Cerrar Panel Hiperparatiroidismo – 14 genes
AIRE, AP2S1, CASR, CDC73, CDKN1A, CDKN1B, CDKN2B, CDKN2C, GCM2, GNA11, MEN1, PTH, RET, TRPV6
Cerrar Panel Trastornos de la Retina Moteada – 12 genes
ABCA4, CHM, CYP4V2, ELOVL4, PLA2G5, PROM1, PRPH2, RDH5, RHO, RLBP1, RS1, VPS13B
Cerrar Síndrome de Holt-Oram – 41 genes
ALX1, BMP4, BMP7, BRCA1, BRCA2, BRIP1, ERCC4, ESCO2, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, LMNA, MAD2L2, MYBPC3, MYH6, NKX2-5, PALB2, RAD51, RAD51C, RBM8A, RFWD3, SALL1, SALL4, SERPINA1, SHOX2, SLX4,TBX1, TBX18, TBX19, TBX22, TBX3 ,TBX5, UBE2T, WWTR1, XRCC2
Cerrar Panel Deficiencia de Carnitina – 11 genes
ACADVL, SLC25A20, ACADM, ACADS, CPT2, CPT1A, CKMT1A, CKMT1B, GAMT, GATM, SLC6A8
Cerrar Panel Pancreatitis – 9 genes
APOA5, APOC2, CFTR, CPA1, CTRC, GPIHBP1, PRSS1, SPINK1, UBR1
Cerrar Panel Insuficiencia Ovárica Prematura – 16 genes
BMP15, CYP17A1, CYP19A1, FOXL2, FSHR, GALT, GNAS, LHCGR, LMNA, NOBOX, NR5A1, POLG, POR, STAG3, STAR, WT1
Cerrar Panel de Holoprosencefalia – 12 genes
CDON, FGF8, FGFR1, FOXH1, GLI2, GLI3, NODAL, PTCH1, SHH, SIX3, TGIF1, ZIC2
Cerrar Panel de Retinosis Pigmentaria – 122 genes
ABCA4, ABHD12, ADIPOR1, AGBL5, AHI1, AIPL1, ARHGEF18, ARL2BP, ARL3, ARL6, BBS1, BBS2, BEST1, C1QTNF5, C21ORF2, C2ORF71, C8ORF37, CA4, CACNA1F, CDHR1, CEP290, CERKL, CHM, CLN3, CLRN1, CNGA1, CNGB1, CNGB3, CRB1, CRX, CTNNA1, CWC27, CYP4V2, DHDDS, DHX38, DYNC2H1, EYS, FAM161A, FLVCR1, GNPTG, GUCY2D, HGSNAT, HK1, IDH3A, IDH3B, IFT140, IMPDH1, IMPG2, INPP5E, KIAA1549, KIZ, KLHL7, LCA5, LRAT, MAK, MERTK, MFRP, MVK, NEK2, NMNAT1, NR2E3, NRL, OAT, OFD1, PDE6A, PDE6B, PDE6G, PEX1, PEX2, PEX7, PHYH, PITPNM3, PLA2G5, POMGNT1, PRCD, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, RBP3, RBP4, RCBTB1, RD3, RDH12, RDH5, REEP6, RGR, RHO, RIMS1, RLBP1, ROM1, RP1, RP1L1, RP2, RPE65, RPGR, RPGRIP1, RS1, SAG, SAMD11, SCAPER, SCLT1, SEMA4A, SLC7A14, SNRNP200, SPATA7, SPP2, TIMP3, TOPORS, TTC8, TTPA, TUB, TULP1, USH1C, USH2A, VPS13B, WDR19, ZNF408, ZNF513
Cerrar Panel Trast Lisosomales y Mucopolisacaridosis – 102 genes
ABCC8, ACY1, ADAMTSL2, ADSL, AGA, ALDH5A1, ALDH7A1, AMT, ANTXR2, ARG1, ARSA, ARSB, ASAH1, ASPA, ATP13A2, BTD, CLN3, CLN5, CLN6, CLN8, COL11A2, COL2A1, CTNS, CTSA, CTSC, CTSD, CTSK, DHCR7, DPYD, DYM, ETFA, ETFB, ETFDH, FH, FOLR1, FUCA1, GAA, GALC, GALNS, GAMT, GBA, GCDH, GLA, GLB1, GLDC, GM2A, GNE, GNPTAB, GNPTG, GNS, GPC3, GUSB, HEXA, HEXB, HGSNAT, HRAS, HYAL1, IDS, IDUA, L2HGDH, LAMA2, LAMP2, LDB3, LIPA, MAN1B1, MAN2B1, MANBA, MCOLN1, MFSD8, MOCS1, MOCS2, MYOT, NAGA, NAGLU, NEU1, NPC1, NPC2, PEX1, PEX10, PEX12, PEX13, PEX16, PEX26, PEX3, PEX5, PEX6, PGK1, PHYH, PPT1, PRODH, PSAP, QDPR, RAI1, SGSH, SLC17A5, SLC25A15, SLC46A1, SMPD1, SUMF1, SUOX, TCF4, TPP1
Cerrar Panel de Pérdida Auditiva y Sordera – 248 genes
ABHD12, ACTG1, ADCY1, ADGRV1, AIFM1, ALMS1, ANKH, ARSG, ATP2B2, ATP6V1B1, ATP6V1B2, BCS1L, BDP1, BSND, BTD, C10ORF2, CABP2, CACNA1D, CATSPER2, CCDC50, CD151, CD164, CDC14A, CDC42, CDH23, CDK9, CDKN1C, CEACAM16, CEP250, CEP78, CHD7, CHSY1, CIB2, CLDN14, CLIC5, CLPP, CLRN1, COCH, COL11A1, COL11A2, COL2A1, COL4A3, COL4A4, COL4A5, COL4A6, COL9A1, COL9A2, COL9A3, CRYM, DCAF17, DCDC2, DFNA5, DFNB31, DFNB59, DIABLO, DIAPH1, DIAPH3, DLX5, DMXL2, DNMT1, DSPP, EDN3, EDNRB, EIF3F, ELMOD3, EPS8, EPS8L2, ESPN, ESRRB, EYA1, EYA4, FAM136A, FAM65B, FDXR, FGF3, FGFR3, FITM2, FOXI1, GATA3, GIPC3, GJA1, GJB2, GJB3, GJB6, GPSM2, GRHL2, GRXCR1, GRXCR2, HARS, HARS2, HGF, HOMER2, HOXB1, HSD17B4, ILDR1, KARS, KCNE1, KCNJ10, KCNQ1, KCNQ4, KIT, LARS2, LHFPL5, LMX1A, LOXHD1, LRP2, LRTOMT, MAN2B1, MANBA, MARVELD2, MET, MGP, MITF, MPZL2, MSRB3, MYH14, MYH9, MYO15A, MYO3A, MYO6, MYO7A, NARS2, NDP, NLRP3, OSBPL2, OTOA, OTOF, OTOG, P2RX2, PAX3, PCDH15, PDE1C, PDZD7, PEX1, PEX26, PEX6, PISD, PNPT1, POLR1C, POLR1D, POU3F4, POU4F3, PRPS1, RDX, RMND1, RPS6KA3, S1PR2, SALL1, SALL4, SEMA3E, SERPINB6, SIX1, SIX5, SLC17A8, SLC19A2, SLC22A4, SLC26A4, SLC26A5, SLC29A3, SLC33A1, SLC52A2, SLC52A3, SLITRK6, SMAD4, SMPX, SNAI2, SOX10, SPATA5, STAG2, SUCLA2, SUCLG1, SYNE4, SYT2, TBC1D24, TBL1X, TCOF1, TECTA, TFAP2A, TIMM8A, TJP2, TMC1, TMEM132E, TMIE, TMPRSS3, TNC, TPRN, TRIOBP, TRMU, TSHZ1, TSPEAR, TUBB4B, TYR, USH1C, USH1G, USH2A, VCAN, WBP2, WFS1, XYLT2, ABHD5, ACOX1, ACTB, AMMECR1, ANLN, ATP6V0A4, CISD2, EDNRA, EFTUD2, FGFR2, FOXC1, GDF6, GREB1L, HOXA2, KITLG, KMT2D, LHX3, MASP1, MCM2, NDRG1, NEFL, NF2, NOG, NR2F1, OPA1, PAX1, PCGF2, PEX11B, PEX12, PEX13, PEX14, PEX2, PEX5, PEX7, PHYH, PMP22, PTPRQ, RAI1, REST, ROR1, SERAC1, SH3TC2, SIX2, SLC44A4, SLC4A11, TBX1, TMEM126A, TRRAP, UBR1
Cerrar Panel Insuficiencia Hepática Metabólica – 16 genes
ALDOB, ATP7B, FAH, GALE, GALK1, GALT, LIPA, MPI, NPC1, NPC2, PHKA2, PHKB, PHKG2, PYGL, SERPINA1, SMPD1
Cerrar Panel de Enfermedad Pulmonar Intersticial – 30 genes
ABCA3, CSF2RA, CSF2RB, DKC1, ELMOD2, FAM111B, FOXF1, HPS1, HPS4, ITGA3, NAF1, NF1, NKX2-1, PARN, RTEL1, SFTPA1, SFTPA2, SFTPB, SFTPC, SLC34A2, SLC7A7, SMPD1, STAT3, STRA6, TERC, TERT, TINF2, TMEM173, TSC1, TSC2
Cerrar Panel Displasias y Trastornos Esqueléticos – 409 genes
ACAN, ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGA, AGPS, AIFM1, AKT1, ALPL, ALX1, ALX3, ALX4, AMER1, ANKH, ANKRD11, ANO5, ANTXR2, ARCN1, ARHGAP31, ARID1B, ARSB, ARSE, ATP6V0A2, ATR, B3GALT6, B3GAT3, B4GALT7, BGN, BHLHA9, BMP1, BMP2, BMPER, BMPR1B, C21ORF2, C2CD3, CA2, CANT1, CASR, CC2D2A, CDC45, CDC6, CDH3, CDKN1C, CDT1, CENPE, CEP120, CEP152, CEP290, CHST14, CHST3, CHSY1, CKAP2L, CLCN5, CLCN7, COG1, COG4, COL10A1, COL11A1, COL11A2, COL1A1, COL1A2, COL27A1, COL2A1, COL9A1, COL9A2, COL9A3, COMP, CREB3L1, CREBBP, CRIPT, CRLF1, CRTAP, CSF1R, CSPP1, CTSA, CTSK, CUL7, CYP27B1, CYP2R1, DDR2, DDX58, DHCR24, DHODH, DLL3, DLL4, DLX3, DLX5, DMP1, DNAJC21, DNMT3A, DOCK6, DONSON, DSE, DVL1, DVL3, DYM, DYNC2H1, DYNC2LI1, EBP, EDN1, EDNRA, EFL1, EFNB1, EFTUD2, EIF2AK3, EIF4A3, ENAM, ENPP1, EOGT, EP300, ERF, ESCO2, EVC, EVC2, EXT1, EXT2, EXTL3, EZH2, FAM111A, FAM20A, FAM20C, FAM46A, FAM83H, FANCB, FANCC, FBN1, FBN2, FERMT3, FGF10, FGF23, FGF9, FGFR1, FGFR2, FGFR3, FIG4, FKBP10, FKBP14, FLNA, FLNB, FN1, FTO, FUCA1, FZD2, GALNS, GALNT3, GCM2, GDF3, GDF5, GDF6, GJA1, GLB1, GLI3, GMNN, GNAI3, GNAS, GNPAT, GNPTAB, GNPTG, GNS, GORAB, GPC6, GSC, GUSB, GZF1, HAAO, HDAC4, HDAC8, HES7, HOXA11, HOXA13, HOXD13, HPGD, HRAS, HSPA9, HSPG2, IARS2, ICK, IDH2, IDS, IDUA, IFIH1, IFITM5, IFT122, IFT140, IFT172, IFT43, IFT52, IFT57, IFT80, IFT81, IGF2, IHH, IL1RN, IMPAD1, INPPL1, INTU, KAT6B, KCNJ2, KIAA0586, KIAA0753, KIF22, KIF7, KL, KMT2A, KYNU, LBR, LEMD3, LFNG, LIFR, LMNA, LMX1B, LONP1, LPIN2, LRP4, LRP5, LTBP2, LTBP3, MAFB, MAP2K1, MAP3K7, MATN3, MBTPS2, MECOM, MEGF8, MEOX1, MESP2, MET, MGP, MKS1, MMP13, MMP2, MMP9, MNX1, MSX2, MYCN, MYH3, MYO18B, NANS, NBAS, NEK1, NF1, NFIX, NIPBL, NKX3-2, NOG, NOTCH1, NOTCH2, NPR2, NSD1, NSDHL, OBSL1, OFD1, ORC1, ORC4, ORC6, OSTM1, P3H1, P4HB, PAM16, PAPSS2, PAX3, PCNT, PCYT1A, PDE3A, PDE4D, PEX5, PEX7, PGM3, PHEX, PIGV, PIK3CA, PISD, PITX1, PLCB4, PLEKHM1, PLOD1, PLOD2, PLS3, POC1A, POLR1A, POLR1C, POLR1D, POLR3A, POLR3B, POP1, POR, PPIB, PRKAR1A, PTDSS1, PTH1R, PTHLH, PTPN11, PYCR1, RAB23, RAB33B, RAD21, RBBP8, RBM8A, RBPJ, RECQL4, RIPPLY2, ROR2, RPGRIP1L, RSPRY1, RUNX2, SALL1, SALL4, SBDS, SC5D, SEC24D, SERPINF1, SERPINH1, SETBP1, SETD2, SF3B4, SFRP4, SGMS2, SGSH, SH3BP2, SH3PXD2B, SHH, SHOX, SKI, SLC10A7, SLC17A5, SLC26A2, SLC29A3, SLC34A3, SLC35D1, SLC39A13, SLCO2A1, SMAD2, SMAD3, SMAD4, SMARCA4, SMARCAL1, SMARCB1, SMARCE1, SMC1A, SMC3, SNRPB, SNX10, SOST, SOX9, SP7, SPARC, SQSTM1, SRP54, STAMBP, SUMF1, TAB2, TAPT1, TBCE, TBX15, TBX3, TBX4, TBX5, TBX6, TBXAS1, TCF12, TCIRG1, TCOF1, TCTEX1D2, TCTN3, TGDS, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2, THPO, TMEM165, TMEM216, TMEM38B, TMEM67, TNFRSF11A, TNFRSF11B, TNFSF11, TONSL, TP63, TRAF3IP1, TRAPPC2, TREM2, TRIP11, TRPS1, TRPV4, TRPV6, TTC21B, TWIST1, TYROBP, UFSP2, VDR, VIPAS39, WDR19, WDR34, WDR35, WDR60, WISP3, WNT1, WNT10B, WNT5A, WNT7A, XRCC4, XYLT1, XYLT2, ZMPSTE24, ZSWIM6
Cerrar Panel de Trastornos del Ciclo de la Urea – 15 genes
ALDH18A1, ARG1, ASL, ASS1, CA5A, CPS1, GLUD1, GLUL, NAGS, OAT, OTC, SLC25A13, SLC25A15, SLC7A7, UMPS
Cerrar Panel de Tubulopatías Hereditarias – 49 genes
SLC4A1, PTH1R, SLC4A4, CDC73, SLC4A5, NR3C2, SLC22A12, CA2, HNF4A, SLC12A7, SLC34A3, CASR, SLC34A1, OCRL, HOGA1, APRT, SLC7A9, CLDN19, CLDN16, FAM20A, HPRT1, AGXT, ATP6V1B1, SLC26A1, CLCNKB, SLC3A1, CLCNKA, ADCY1, SLC9A3R1, HSD11B2, AP2S1, BSND, ATP6V0A4, CNNM2, KCNJ1, XDH, SLC12A2, SLC12A3, KCNJ10, SLC12A5, VDR, EGF, SLC12A1, KLHL3, SLC2A9, GRHPR, CLCN5, CYP24A1, FXY
Cerrar Panel de Craneosinostosis – 65 genes
ALPL, ASXL1, B3GAT3, CD96, CDC45, CDT1, COLEC11, CYP26B1, EFNA4, EFNB1, ERF, ESCO2, FBN1, FGF9, FGFR1, FGFR2, FGFR3, FREM1, GLI3, GPC3, IFT122, IFT140, IFT43, IGF1R, IL11RA, KAT6A, KAT6B, MASP1, MEGF8, MSX2, NFIA, ORC1, ORC4, ORC6, P4HB, PHEX, POR, PPP3CA, RAB23, RECQL4, RSPRY1, RUNX2, SCARF2, SEC24D, SIX2, SKI, SLC25A24, SMAD2, SMAD3, SMAD6, SOX6, SPECC1L, STAT3, TCF12, TCOF1, TGFB2, TGFB3, TGFBR1, TGFBR2, TMCO1, TWIST1, WDR19, WDR35, ZEB2, ZIC1
Cerrar Panel de Hipoventilación Central y Apnea – 15 genes
CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, COLQ, EDN3, GLRA1, MECP2, PHOX2B, RAPSN, RET, SCN4A, SLC6A5, ZEB2
Cerrar Panel Nefrolitiasis – 45 genes
ADCY10, AGXT, ALPL, APRT, ATP6V0A4, ATP6V1B1, ATP7B, BSND, CA2, CASR, CLCN5, CLCNKA, CLCNKB, CLDN16, CLDN19, CLPB, CYP24A1, FAM20A, FOXI1, GNA11, GPHN, GRHPR, HNF4A, HOGA1, HPRT1, KCNJ1, MAGED2, MOCOS, MOCS1, MOCS2, OCRL, PRPS1, SLC12A1, SLC22A12, SLC26A1, SLC2A9, SLC34A1, SLC34A3, SLC3A1, SLC4A1, SLC7A9, SLC9A3R1, UMOD, VDR, XDH
Cerrar Panel de Hipomagnesemia – 19 genes
BSND, CASR, CLCNKB, CLDN16, CLDN19, CNNM2, CNNM4, EGF, FAM111A, FXYD2, HNF1B, KCNA1, KCNJ10, MAGT1, NIPA2, PCBD1, SARS2, SLC12A3, TRPM6
Cerrar Panel Insuficiencia de la Medula Osea – 112 genes
ABCB7, ACD, ADA2, AK2, ALAS2, AP3B1, BRCA2, BRIP1, CD40, CD40LG, CEBPE, CLPB, CSF3R, CTC1, CXCR4, DDX41, DKC1, DNAJC21, EFL1, ELANE, ERCC4, ERCC6L2, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, G6PC, G6PC3, GATA1, GATA2, GFI1, HAX1, HTRA2, JAGN1, LYST, MECOM, MPL, MYSM1, NHP2, NOP10, PALB2, PARN, POT1, RAB27A, RBM8A, RECQL4, RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS29, RPS7, RTEL1, RUNX1, SAMD9, SAMD9L, SLX4, SMARCD2, SRP54, SRP72, STK4, STN1, TAZ, TCN2, TERT, TIMM50, TINF2, TP53, UBE2T, USB1, VPS13B, VPS45, WAS, WRAP53, ATR, BRCA1, FANCM, HYOU1, KDM1A, KIT, LAMTOR2, LIG4, MAD2L2, MBD4, NAF1, RAD51, RAD51C, RFWD3, RPL18, RPL19, RPL23, RPL27, RPL31, RPL35, RPL9, RPS15A, RPS27, RPS28, SBF2, TNFSF12, TSR2, XRCC2
Cerrar Panel Anemia de Fanconi -24 genes
ATM, ATR, BLM, BRCA1, BRCA2, BRIP1, CXCR4, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, NBN, PALB2, RAD51C, SLX4, UBE2T, XRCC2
Cerrar Panel de Microftalmia, Anoftalmia y Disgenesia del Segmento Anterior – 63 genes
ABCB6, ADAMTS18, ALDH1A3, BCOR, BMP4, BMP7, CDK9, CHD7, COL4A1, COX7B, CPAMD8, CYP1B1, ERCC2, ERCC5, ERCC6, FOXC1, FOXE3, FOXL2, FRAS1, FREM1, FREM2, GJA1, GRIP1, HCCS, HESX1, HMGB3, HMX1, MAB21L2, MFRP, MITF, NAA10, NDP, OCRL, OTX2, PAX2, PAX6, PITX2, PQBP1, PRSS56, PXDN, RAB18, RAB3GAP1, RAB3GAP2, RARB, RAX, RBP4, SHH, SIPA1L3, SIX3, SIX6, SLC38A8, SMCHD1, SMOC1, SOX2, STRA6, TBC1D20, TENM3, TFAP2A, VAX1, VPS13B, VSX2, YAP1, ZIC2
Cerrar Panel de Trastornos del Sistema del Complemento- 79 genes
ADIPOQ, ADIPOR1, ADIPOR2, ARMC4, CFAP300, C1QA, C1QB, C1QBP, C1QC, C1S, C2, C3, C3AR1, C4BPA, C4BPB, C5, C5AR1, C5AR2, C6, C7, C8A, C8B, C8G, C9, CCDC103, CCDC114, CCDC39, CCDC40, CCDC65, CCNO, CD46, CD55, CD59, CD93, CFB, CFD, CFH, CFI, CFP, CLU, COLEC11, CR2, CRP, DGKE, DNAAF1, DNAAF2, DNAAF3, DNAAF5, DNAH11, DNAH5, DNAH9, DNAI1, DNAI2, DNAL1, DRC1, DNAAF4, FCN1, FCN2, FCN3, GAS2L2, LRRC6, MASP1, MASP2, MAT2A, MCIDAS, NME8, OFD1, PIGA, PTX3, RSPH1, RSPH4A, RSPH9, SERPING1, SPAG1, STK36, THBD, VSIG4, VTN, ZMYND10
Cerrar Panel de Atrofia Óptica – Neuropatía óptica hereditaria de Leber (LHON) con ADN mitocondrial – 74 genes
ACO2, AFG3L2, ATAD3A, AUH, C12ORF65, C19ORF12, CISD2, DNAJC19, DNM1L, FDXR, ISCA2, MECR, MFN2, MGME1, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, MTPAP, NARS2, NDUFAF3, NDUFS1, NR2F1, OPA1, OPA3, PDSS1, POLG, PRPS1, RTN4IP1, SLC19A2, SLC19A3, SLC25A46, SLC52A2, SPG7, SUCLA2, TIMM8A, TMEM126A, TSFM, UCHL1, WFS1, YME1L1
Cerrar Panel de Síndrome Nefrótico – 59 genes
ACTN4, ADCK4, ANLN, APOL1, ARHGAP24, ARHGDIA, CD2AP, COL4A3, COL4A4, COL4A5, COQ2, COQ6, CRB2, CUBN, DGKE, DLC1, EMP2, FAN1, FAT1, FN1, INF2, ITGA3, KANK1, KANK2, KANK4, LAGE3, LAMB2, LMX1B, LYZ, MAFB, MAGI2, MYH9, MYO1E, NPHS1, NPHS2, NUP107, NUP133, NUP205, NUP85, NUP93, OSGEP, PAX2, PDSS2, PLCE1, PTPRO, SCARB2, SGPL1, SMARCAL1, TBC1D8B, TP53RK, TPRKB, TRIM8, TRPC6, TTC21B, TTR, WDR4, WDR73, WT1, XPO5
Cerrar Panel de Poliquistosis Renal – 45 genes
ALG8, ANKS6, BICC1, CEP164, CEP290, CEP83, CEP89, COL4A1, CRB2, DCDC2, DICER1, DNAJB11, DZIP1L, GANAB, GLIS2, HNF1B, IFT172, INVS, IQCB1, JAG1, LRP5, MAPKBP1, NEK8, NOTCH2, NPHP1, NPHP3, NPHP4, OFD1, PAX2, PKD1, PKD2, PKHD1, PRKCSH, RPGRIP1L, SDCCAG8, SEC61A1, SEC63, TMEM67, TSC1, TSC2, TTC21B, UMOD, VHL, WDR19, ZNF423
Cerrar Panel Básico de Displasias Esqueléticas – 111 genes
ACAN, ACP5, ADAMTS10, ADAMTSL2, AGPS, ALPL, ANKH, ARSE, B3GALT6, BMP1, BMPR1B, CA2, CANT1, CCN6, CDC6, CDKN1C, CDT1, CHST3, CLCN7, COL10A1, COL11A1, COL11A2, COL1A1, COL1A2, COL2A1, COL9A1, COL9A2, COL9A3, COMP, CRTAP, CSPP1, CTSK, CUL7, CYP27B1, DHCR24, DLL3, DVL1, DYM, DYNC2H1, EBP, EIF2AK3, ENPP1, ESCO2, EVC, EVC2, FAM20C, FGF23, FGFR1, FGFR2, FGFR3, FKBP10, FLNA, FLNB, GDF5, GNPAT, HSPG2, IFT140, IFT172, IFT80, IHH, INPPL1, KAT6B, LBR, LIFR, LMX1B, LRP5, LTBP2, MATN3, MMP9, MYO18B, NEK1, NPR2, OBSL1, ORC1, ORC4, ORC6, P3H1, PAPSS2, PCNT, PEX7, PHEX, PISD, PLOD2, PLS3, PPIB, PTH1R, ROR2, RUNX2, SBDS, SERPINF1, SERPINH1, SHOX, SLC26A2, SLC34A3, SLC39A13, SMAD4, SMARCAL1, SOX9, TCIRG1, TGFB1, TNFRSF11A, TNFRSF11B, TRAPPC2, TRIP11, TRPV4, TTC21B, VDR, WDR19, WDR35, WNT5A, XYLT1
Cerrar Panel de Glaucoma – 19 genes
CNTNAP2, COL4A1, CYP1B1, FOXC1, FOXE3, LMX1B, LTBP2, MAF, MYOC, OPA1, OPA3, OPTN, PAX6, PITX2, PXDN, TBK1, TEK, TMEM126A, WDR36
Cerrar Panel Discapacidad Intelectual Ligada X – 104 genes
ABCD1, ACSL4, AFF2, AP1S2, ARHGEF6, ARHGEF9, ARX, ATP6AP2, ATP7A, ATRX, BCOR, BRWD3, CASK, CDKL5, CLCN4, CNKSR2, CUL4B, DCX, DDX3X, DKC1, DLG3, ELK1, FANCB, FGD1, FLNA, FRMPD4, FTSJ1, GDI1, GK, GPC3, GRIA3, HCCS, HDAC8, HPRT1, HSD17B10, HUWE1, IDS, IGBP1, IL1RAPL1, IQSEC2, KDM5C, KIAA2022, KLF8, L1CAM, LAMP2, MAGT1, MAOA, MBTPS2, MECP2, MED12, MID1, MSL3, MTM1, NDP, NDUFA1, NHS, NLGN3, NLGN4X, NONO, NSDHL, OCRL, OFD1, OPHN1, OTC, PAK3, PCDH19, PDHA1, PGK1, PHF6, PHF8, PLP1, PORCN, PQBP1, PRPS1, PTCHD1, RAB39B, RBM10, RLIM, RPL10, RPS6KA3, SHROOM4, SLC16A2, SLC6A8, SLC9A6, SMC1A, SMS, SOX3, SRPX2, SYN1, SYP, TAF1, THOC2, TIMM8A, TSPAN7, UBE2A, UPF3B, USP9X, ZC4H2, ZCCHC12, ZDHHC9, ZNF41, ZNF674, ZNF711, ZNF81
Cerrar Panel Rett, Angelman y Trast Relacionados – 40 genes
ADSL, ALDH5A1, ARX, ATRX, CAMK2B, CDKL5, CLTC, CNTNAP2, CTNNB1, DDX3X, DYRK1A, EHMT1, FOLR1, FOXG1, GABBR2, GRIA3, GRIN2A, GRIN2B, HDAC8, IQSEC2, KANSL1, KCNA2, MBD5, MECP2, MEF2C, NGLY1, NRXN1, SATB2, SCN2A, SCN8A, SLC6A1, SLC9A6, SMC1A, STXBP1, SYNGAP1, TBL1XR1, TCF4, UBE3A, WDR45, ZEB2
Cerrar Panel Amaurosis Congénita de Leber – 28 genes
AIPL1, ALMS1, BBS4, CABP4, CEP290, CNGA3, CRB1, CRX, CWC27, DTHD1, GUCY2D, IDH3A, IMPDH1, IQCB1, KCNJ13, LCA5, LRAT, MERTK, MYO7A, NMNAT1, RD3, RDH12, RDH5, RPE65, RPGRIP1, SPATA7, TUBB4B, TULP1
Cerrar Panel Cataratas – 76 genes
ABCB6, ADAMTS18, ADAMTSL4, AGK, ALDH18A1, BCOR, BFSP1, BFSP2, CHMP4B, COL11A1, COL18A1, COL2A1, COL4A1, CRYAA, CRYAB, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGC, CRYGD, CRYGS, CTDP1, CYP27A1, DNMBP, EPHA2, ERCC2, ERCC5, ERCC6, ERCC8, EYA1, FAM126A, FOXE3, FTL, FYCO1, FZD4, GALE, GALK1, GALT, GCNT2, GJA1, GJA3, GJA8, HSF4, LEMD2, LIM2, MAF, MIP, MYH9, NDP, NF2, NHS, OCRL, OPA3, P3H2, PAX6, PITX3, PXDN, RAB18, RAB3GAP1, RAB3GAP2, RECQL4, SIL1, SIPA1L3, SLC16A12, SLC33A1, TBC1D20, TDRD7, TFAP2A, TMEM70, VIM, VSX2, WFS1, WRN, XYLT2
Cerrar Panel Discinesia Ciliar Primaria – 47 genes
ARMC4, C11ORF70, C21ORF59, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, CENPF, CFAP57, CFTR, DNAAF1, DNAAF2, DNAAF3, DNAAF5, DNAH1, DNAH11, DNAH5, DNAH8, DNAH9, DNAI1, DNAI2, DNAJB13, DNAL1, DRC1, DYX1C1, GAS2L2, GAS8, HYDIN, INVS, LRRC56, LRRC6, MCIDAS, NME8, OFD1, PIH1D3, RPGR, RSPH1, RSPH3, RSPH4A, RSPH9, SPAG1, STK36, TTC25, ZMYND10
Cerrar Panel de Síndrome de Kallmann – 31 genes
ANOS1, CDK9, CHD4, CHD7, DHCR7, FEZF1, FGF17, FGF8, FGFR1, FSHB, GNRH1, GNRHR, HS6ST1, IL17RD, KISS1, KISS1R, LEP, LEPR, LHB, NR0B1, NSMF, POLR3B, PROK2, PROKR2, PROP1, RNF216, SOX10, SOX2, TAC3, TACR3, WDR11
Cerrar Panel Def. del Factor de Coagulación – 16 genes
F10, F11, F12, F13A1, F2, F5, F7, F8, F9, FGA, FGB, FGG, GGCX, LMAN1, VKORC1, VWF
Cerrar Panel de Colestasis – 52 genes
ABCB11, ABCB4, ABCC2, AKR1D1, ATP8B1, BAAT, CFTR, CLDN1, CREB3L3, CYP7B1, DCDC2, DGUOK, EPCAM, FAH, HSD3B7, JAG1, LCT, LIPA, LMF1, MKS1, MPV17, MYO5B, NEUROG3, NOTCH2, NPC1, NPC2, NPHP1, NPHP3, NPHP4, NR1H4, PEX1, PEX10, PEX12, PEX2, PEX26, PEX5, PEX6, SCYL1, SERPINA1, SLC25A13, SLC26A3, SLCO1B1, SLCO1B3, SMPD1, SPINT2, TJP2, TMEM216, TRMU, TTC37, UGT1A1, VIPAS39, VPS33B
Cerrar Panel de Glucogenosis – 29 genes
AGL, ALDOA, ENO3, EPM2A, FBP1, G6PC, GAA, GBE1, GYG1, GYS1, GYS2, LAMP2, LDHA, NHLRC1, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PRKAG2, PRKAG3, PYGL, PYGM, RBCK1, SLC2A2, SLC37A4
Cerrar Panel de Albinismo – 26 genes
AP3B1, BLOC1S3, BLOC1S6, C10ORF11, DTNBP1, EDN3, EDNRB, GPR143, HPS1, HPS3, HPS4, HPS5, HPS6, LYST, MC1R, MITF, MLPH, MYO5A, OCA2, PAX3, RAB27A, SLC24A5, SLC38A8, SLC45A2, TYR, TYRP1
Cerrar Panel de Hipotiroidismo y Resistencia a la Hormona Tiroidea – 22 genes
DUOX2, DUOXA2, FOXE1, GNAS, HESX1, IGSF1, NKX2-1, NKX2-5, PAX8, POU1F1, PROP1, SECISBP2, SLC16A2, SLC26A4, SLC5A5, TBL1X, TG, THRA, THRB, TPO, TSHB, TSHR
Cerrar Panel Síndrome de Stickler – 8 genes
COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, LRP2, VCAN
Cerrar Panel de Ictiosis Congénita – 46 genes
ABCA12, ABHD5, ALDH3A2, ALOX12B, ALOXE3, AP1S1, AQP5, CAST, CDSN, CERS3, CLDN1, CYP4F22, EBP, ELOVL1, ELOVL4, GJA1, GJB2, GJB3, GJB4, GJB6, KDSR, KRT1, KRT10, KRT2, KRT9, LIPN, LOR, MBTPS2, NIPAL4, PEX7, PHYH, PNPLA1, POMP, SDR9C7, SERPINB7, SERPINB8, SLC27A4, SNAP29, SPINK5, ST14, STS, SULT2B1, SUMF1, TGM1, VPS33B, ZMPSTE24
Cerrar Panel de Atrofia Óptica – 76 genes
ACO2, AFG3L2, ATAD3A, AUH, C12ORF65, C19ORF12, CISD2, DNAJC19, DNM1L, FDXR, ISCA2, MECR, MFN2, MGME1, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, MTPAP, NARS2, NDUFAF3, NDUFS1, NR2F1, OPA1, OPA3, PDSS1, POLG, PRPS1, RTN4IP1, SLC19A2, SLC19A3, SLC25A46, SLC52A2, SNX10, SPG7, SUCLA2, TIMM8A, TMEM126A, TSFM, UCHL1, WFS1, YME1L1, ZNHIT3
Cerrar Panel de Anemia Hemolítica – 40 genes
ABCG5, ABCG8, ADA, AK1, ALAS2, ALDOA, ANK1, BPGM, C15orf41, CD59, CDAN1, COL4A1, CYB5R3, EPB41, EPB42, G6PD, GATA1, GCLC, GPI, GSR, GSS, GYPC, HK1, HMOX1, KCNN4, KIF23, KLF1, LPIN2, NT5C3A, PFKM, PGK1, PIEZO1, PKLR, RHAG, SEC23B, SLC2A1, SLC4A1, SPTA1, SPTB, TPI1
Cerrar Panel de Trastornos Relacionados con el Colágeno tipo VI – 6 genes
COL12A1, COL4A1, COL4A2, COL6A1, COL6A2, COL6A3
Cerrar Panel de Distrofia Muscular de Cinturas (LGMD) – 40 genes
ANO5, CAPN3, CAV3, DAG1, DES, DMD, DNAJB6, DYSF, FKRP, FKTN, GAA, GMPPB, GOSR2, HNRNPDL, ISPD, KBTBD13, LAMA2, LIMS2, LMNA, MYOT, PLEC, PNPLA2, POGLUT1, POMGNT1, POMGNT2, POMK, POMT1, POMT2, SGCA, SGCB, SGCD, SGCG, SMCHD1, TCAP, TK2, TNPO3, TOR1AIP1, TRAPPC11, TRIM32, TTN
Cerrar Panel de Ciliopatías – 174 genes
ADAMTS9, AHI1, AK7, ALG8, ALMS1, ANKS6, ARL13B, ARL3, ARL6, ARMC4, ARMC9, B9D1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, C11orf70, C2CD3, C8orf37, CC2D2A, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, CCNQ, CELSR2, CENPF, CEP104, CEP120, CEP164, CEP19, CEP290, CEP41, CEP55, CEP83, CFAP298, CFAP410, CFTR, CLUAP1, CPLANE1, CRB2, CSPP1, CTU2, DCDC2, DDX59, DHCR7, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH1, DNAH11, DNAH5, DNAH8, DNAH9, DNAI1, DNAI2, DNAJB11, DNAJB13, DNAL1, DRC1, DYNC2H1, DYNC2LI1, DZIP1L, EVC, EVC2, EXOC3L2, EXOC8, FAM186B, FBN3, FGFR1, FGFR2, FGFR3, GANAB, GAS8, GLIS2, HNF1B, HYLS1, ICK, IFT122, IFT140, IFT172, IFT27, IFT43, IFT52, IFT57, IFT74, IFT80, IFT81, INPP5E, INTU, INVS, IQCB1, KIAA0556, KIAA0586, KIAA0753, KIF14, KIF7, LRP5, LRRC56, LRRC6, LRRCC1, LZTFL1, MAPKBP1, MCIDAS, MKKS, MKS1, MRE11, NEK1, NEK8, NOTCH2, NPHP1, NPHP3, NPHP4, OFD1, PDE6D, PIAS1, PIBF1, PIH1D3, PKD2, PKHD1, PMM2, PRKCSH, RBM48, RCOR1, RPGR, RPGRIP1L, RSPH1, RSPH3, RSPH4A, RSPH9, SCLT1, SDCCAG8, SEC63, SLC30A7, SPAG1, SUFU, TBC1D32, TCTEX1D2, TCTN1, TCTN2, TCTN3, TMEM107, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TRAF3IP1, TRAPPC3, TRIM32, TTC21B, TTC26, TTC8, TXNDC15, USP9X, WDPCP, WDR19, WDR34, WDR35, WDR60, XPNPEP3, ZMYND10, ZNF423
Cerrar Panel de Braquidactilia / Sindactilia – 21 genes
BMP2, BMPR1B, CHSY1, DHCR7, ESCO2, FAM58A, GDF5, GNAS, HOXA13, HOXD13, IHH, MYCN, NOG, PDE3A, PDE4D, PTDSS1, PTHLH, RECQL4, ROR2, SOX9, TP63
Cerrar Panel de Artrogriposis – 78 genes
ACTA1, ADGRG6, AGRN, BIN1, CACNA1E, CASK, CFL2, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CHST14, CHUK, CNTNAP1, COL6A2, COLQ, DHCR24, DOK7, DPAGT1, ECEL1, EGR2, ERBB3, ERCC5, ERCC6, EXOSC3, FBN2, FHL1, FKBP10, FKTN, FLVCR2, GBA, GBE1, GFPT1, GLDN, GLE1, KAT6B, KIAA1109, KLHL40, LGI4, LMNA, MPZ, MTM1, MUSK, MYBPC1, MYH2, MYH3, MYH8, NALCN, NEB, PIEZO2, PLOD2, PMM2, PPP3CA, RAPSN, RARS2, RIPK4, SCO2, SELENON, SMN1, SMN2, TGFB3, TK2, TNNI2, TNNT1, TNNT3, TPM2, TPM3, TRPV4, TSEN2, TSEN54, UBA1, VIPAS39, VPS33B, VRK1, ZBTB42, ZC4H2
Cerrar Panel de Trastornos Hemorrágicos/Coagulopatía – 71 genes
ABCG5, ABCG8, ACTN1, ADAMTS13, ANKRD26, AP3B1, ARPC1B, BLOC1S3, BLOC1S6, CYCS, DTNBP1, EFL1, ETV6, F10, F11, F12, F13A1, F2, F5, F7, F8, F9, FGA, FGB, FGG, FLNA, FLI1, FYB1, GATA1, GBA, GFI1B, GGCX, GP1BA, GP1BB, GP9, HPS1, HPS3, HPS4, HPS5, HPS6, HOXA11, ITGA2, ITGA2B, ITGB3, LMAN1, MASTL, MCFD2, MECOM, MPL, MYH9, NBEAL2, P2RY12, PRKACG, PROC, PROS1, RASGRP2, RBM8A, RUNX1, SERPINC1, SERPINF2, SLFN14, SRC, SRP54, TBXA2R, THBD, THPO, TUBB1, VKORC1, VWF, WAS, WIPF1
Cerrar Panel de Displasia Ectodérmica y Trastornos Relacionados – 73 genes
ANTXR1, APCDD1, ATP7A, AXIN2, BCS1L, BMP4, CDH3, CDSN, CLDN1, CTSC, DSG4, DSP, EDA, EDAR, EDARADD, EGFR, ERCC2, ERCC3, ERCC8, GJA1, GJB2, GJB6, GRHL2, GTF2E2, GTF2H5, HOXC13, HR, IRF6, JUP, KANK2, KDF1, KREMEN1, KRT14, KRT16, KRT17, KRT25, KRT6A, KRT6B, KRT6C, KRT71, KRT74, KRT83, KRT85, LIPH, LPAR6, LRP6, LSS, LTBP3, MBTPS2, MPLKIP, MSX1, NECTIN1, NECTIN4, NFKBIA, PAX9, PKP1, POC1A, PORCN, PTH1R, RIN2, RNF113A, RPL21, SMOC2, SNRPE, SOX18, SPINK5, TFAP2B, TP63, TRPS1, TRPV3, TSPEAR, WNT10A, WNT10B
Cerrar Panel de Paraganglioma-Feocromocitoma Hereditario – 14 genes
EGLN1, FH, KIF1B, MAX, MEN1, NF1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL
Cerrar Panel de Hipoparatiroidismo – 9 genes
AIRE, PTH, SOX3, CASR, GATA3, GNA11, GCM2, TBX1, PTH1R
Cerrar Panel Síndrome de Bartter – 10 genes
AP2S1, BSND, CASR, CLCNKA, CLCNKB, GNA11, KCNJ1, MAGED2, SLC12A1, SLC12A3
Cerrar Panel de Porfirias – 21 genes
ABCB10, ABCB6, ABCB7, ABCG2, ALAD, ALAS1, ALAS2,CLPX, CPOX, FECH, GATA1, HMBS, NR1I2, PPOX, SLC15A2 ,UROD, UROS, TMEM14C,SLC25A28, SLC25A38, SLC25A37
Cerrar Panel de Hiperinsulinismo – 12 genes
ABCC8, KCNJ11, GLUD1, GCK, HADH, HNF1A, HNF4A, SLC16A1, UCP2, PGM1, HK1, PMM2
Cerrar Panel Integral de Diabetes Monogénica, Panel MODY con ADN mitocondrial – 67 genes
ABCC8, APPL1, BLK, CEL, EIF2AK3, FOXP3, GATA6, GCK, GLIS3, GLUD1, HADH, HNF1A, HNF1B, HNF4A, INS, INSR, KCNJ11, KLF11, NEUROD1, NEUROG3, PAX4, PDX1, PPARG, PTF1A, RFX6, SLC16A1, SLC2A2, UCP2, WFS1, ZFP57, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY
Cerrar 