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    EnfermedadPanelGenes
    Desordenes hematologicos e inmunesEritrocitos (31 genes, BID01)AMN, ANK1, C15orf41, CDAN1, COX4I2, CUBN, EGLN1, EPAS1, EPB42, EPOR, G6PD, GATA1, GIF, HBB, HBD, KIF23, KLF1, LPIN2, RPL11, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS7, SEC23B, SH2B3, SPTA1, SPTB, VHL
    Desordenes hematologicos e inmunesPlaquetas, desordenes de la coagulacion (12 genes, BID02)ADAMTS13, F10, F11, F12, F13A1, F2, F5, F8, SERPINC1, SERPINE1, VHL, VWF
    Desordenes hematologicos e inmunesTrombocitopenia (14 genes, BID03)ADAMTS13, ETV6, GATA1, GP1BA, GP1BB, GP9, ITGA2B, ITGB3, MASTL, MPL, RBM8A, RUNX1, THBD, WAS
    Desordenes hematologicos e inmunesSindromes de falla medular osea (37 genes, BID04)BRCA2, BRIP1, CTC1, DKC1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, IFNG, LIG4, LYST, MRE11A, NBN, NHP2, NOP10, PALB2, PRF1, RAD51C, RTEL1, SBDS, SLX4, SRP72, STX11, STXBP2, TERC, TERT, TINF2, USB1, WAS, WRAP53, XRCC2
    Desordenes hematologicos e inmunesSindromes de falla medular osea, leucemia (5 genes, BID05)CASP10, CEBPA, GATA1, NBN, RUNX1
    Desordenes hematologicos e inmunesSindromes de falla medular osea, metabolismo (4 genes, BID06)SLC35C1, SLC37A4, SLC46A1, TCN2
    Desordenes hematologicos e inmunesDeficiencias de anticuerpos (29 genes, BID07)AICDA, BLNK, BTK, CD19, CD40, CD40LG, CD79A, CD79B, CD81, CR2, CXCR4, DKC1, DNMT3B, ICOS, IGLL1, LRBA, LRRC8A, MS4A1, NFKB2, PIK3CD, PIK3R1, PRKCD, RTEL1, TCF3, TCF4, TNFRSF13B, TNFRSF13C, TNFSF12, UNG
    Desordenes hematologicos e inmunesDeficiencias del complemento (28 genes, BID08)C1QA, C1QB, C1QC, C1R, C1S, C2, C3, C5, C6, C7, C8A, C8B, C8G, C9, CD46, CD59, CFB, CFD, CFH, CFHR1, CFHR3, CFI, CFP, FCN3, ITGB2, MBL2, SERPING1, THBD
    Desordenes hematologicos e inmunesDesordenes autoinflamatorios (24 genes, BID09)CARD14, ELANE, IL10, IL10RA, IL10RB, IL1RN, IL21, IL21R, IL36RN, LPIN2, LRBA, MEFV, MVK, NLRP12, NLRP3, NOD2, PLCG2, PSMB8, PSTPIP1, RBCK1, SLC29A3, TNFRSF1A, TTC7A, XIAP
    Desordenes hematologicos e inmunesDisrregulacion inmune (24 genes, BID10)AIRE, AOAH, AP3B1, CARD11, CASP10, CASP8, CD27, FAS, FASLG, FCGR2B, FOXP3, IL2RA, ITCH, ITK, LYST, PRF1, PRKCD, RAB27A, SH2D1A, STX11, STXBP2, TREX1, UNC13D, XIAP
    Desordenes hematologicos e inmunesDefectos de fagocitos (40 genes, BID11)AP3B1, CD40, CD40LG, CEBPE, CSF3R, CTSC, CXCR2, CXCR4, CYBA, CYBB, ELANE, FERMT3, G6PC3, GATA1, GATA2, GFI1, HAX1, IFNGR1, IFNGR2, IL12B, IL12RB1, IRF8, ISG15, ITGB2, JAGN1, LAMTOR2, MPO, NCF1, NCF2, NCF4, RAC2, SLC35C1, SLC37A4, SLC46A1, STAT1, TCIRG1, TCN2, TYK2, VPS45, WAS
    Desordenes hematologicos e inmunesDefectos de la inmunidad innata (18 genes, BID12)AIRE, CARD9, CXCR4, GATA2, IL12B, IL12RB1, IL17F, IL17RA, IRAK4, MCM4, MYD88, NFKBIA, STAT1, STAT3, TIRAP, TMC6, TMC8, TRAF3IP2
    Desordenes hematologicos e inmunesInmunodeficiencias combinadas (48 genes, BID13)ADA, AK2, CARD11, CD247, CD3D, CD3E, CD3G, CD40, CD40LG, CD8A, CIITA, CORO1A, DCLRE1C, DOCK8, FOXN1, IKBKB, IL12RB1, IL21, IL21R, IL2RG, IL7R, JAK3, LCK, LRBA, MAGT1, MALT1, MRP, NHEJ1, ORAI1, PIK3CD, PNP, PRKDC, PTPRC, RAG1, RAG2, RFX5, RFXANK, RFXAP, RHOH, RMRP, STIM1, STK4, TAP1, TAP2, TAPBP, TNFRSF4, UNC119, ZAP70
    Desordenes hematologicos e inmunesSindromes con inmunodeficiencias (37 genes, BID14)ACP5, ADAR, ATM, BLM, CFH, CHD7, DNM2, DNMT3B, DOCK8, DSG1, FOXP3, MCM4, MRE11A, NBN, NLRP3, NOD2, PMS2, POLE, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, RNF168, SAMHD1, SMARCAL1, SP110, SPINK5, STAT3, STAT5B, TAZ, TBX1, TREX1, TYK2, USB1, VPS13B, WAS, ZBTB24
    CiliopatiasDiscinesis ciliar primaria (34 genes, CIL01)ARMC4, C21ORF59, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, CENPF, DNAAF1, DNAAF2, DNAAF3, DNAH11, DNAH5, DNAH8, DNAI1, DNAI2, DNAL1, DRC1, DYX1C1, GAS8, HEATR2, HYDIN, LRRC6, NME8, OFD1, RPGR, RSPH1, RSPH3, RSPH4A, RSPH9, SPAG1, ZMYND10
    CiliopatiasSindrome Joubert (28 genes, CIL02)AHI1, ARL13B, B9D1, C5orf42, CC2D2A, CEP104, CEP164, CEP290, CEP41, CSPP1, INPP5E, KIAA0556, KIAA0586, KIF7, NPHP1, OFD1, PDE6D, RPGRIP1L, TCTN1, TCTN2, TCTN3, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TTC21B, ZNF423
    CiliopatiasSindrome Bardet-Biedl (24 genes, CIL03)ALMS1, ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, CCDC28B, CEP290, IFT172, IFT27, LZTFL1, MKKS, MKS1, NPHP1, SDCCAG8, TRIM32, TTC21B, TTC8, WDPCP
    CiliopatiasSindrome Senior Loken (12 genes, CIL04)CEP164, CEP290, IFT81, INVS, IQCB1, NPHP1, NPHP3, NPHP4, SDCCAG8, TRAF3IP1, WDR19, ZNF423
    Enfermedades del tejido conectivoSindrome Stickler (5 genes, CTD01)COL11A1, COL11A2, COL2A1, COL9A1, COL9A2
    Enfermedades del tejido conectivoEnfermedades del tejido conectivo: Sindrome Ehlers-Danlos, Sindrome Marfan, Sindrome Loeys-Dietz, aneurisma aortico y diagnosticos diferenciales (44 genes, CTD02)ABCC6, ACTA2, ADAMTS2, ALDH18A1, ATP6V0A2, ATP7A, B3GALT6, B4GALT7, CHST14, COL1A1, COL1A2, COL3A1, COL4A1, COL5A1, COL5A2, DSE, EFEMP2, ELN, FBLN5, FBN1, FBN2, FKBP14, GORAB, LTBP4, MAT2A, MFAP5, MYH11, MYLK, PLOD1, PLOD3, PRDM5, PRKG1, PYCR1, RIN2, SKI, SLC2A10, SLC39A13, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2, TNXB, ZNF469
    Enfermedades de la pielAlbinismo oculocutaneo (8 genes, DRM01)C10orf11, GPR143, LYST, MC1R, OCA2, SLC45A2, TYR, TYRP1
    Enfermedades de la pielAlbinismo sindromico y desordenes relacionados: Sindrome Hermansky-Pudlak, Sindrome Griscelli, Sindrome Waardenburg (9 genes, DRM02)AP3B1, BLOC1S3, BLOC1S6, DTNBP1, HPS1, HPS3, HPS4, HPS5, HPS6
    Enfermedades de la pielHiperpigmentacion: Dowling-Degos y desordenes relacionados (32 genes, DRM03)ABCB6, ADAM10, ADAR, BLM, EDN3, EDNRB, ENPP1, EPG5, HAMP, HFE, HFE2, KIT, KITLG, KRT14, KRT5, LYST, MITF, MLPH, MYO5A, NF1, NF2, PAX3, POFUT1, POGLUT1, PTPN11, RAB27A, SLC40A1, SNAI2, SOX10, SPRED1, STK11, TFR2
    Enfermedades de la pielIctiosis, keratoderma palmoplantar, y desordenes relacionados de la cornificacion (65 genes, DRM04)AAGAB, ABCA12, ABHD5, ALDH3A2, ALMS1, ALOX12B, ALOXE3, AP1S1, AQP5, ATP2A2, ATP2C1, CARD14, CDSN, CERS3, CLDN1, CSTA, CTSC, CYP4F22, DSG1, DSP, EBP, ELOVL4, ENPP1, ERCC2, ERCC3, FLG, GJB2, GJB3, GJB4, GJB6, GTF2H5, JUP, KRT1, KRT10, KRT14, KRT16, KRT17, KRT2, KRT6A, KRT6B, KRT6C, KRT9, LIPN, LOR, MBTPS2, NIPAL4, NSDHL, PHYH, PNPLA1, POMP, RHBDF2, SERPINB7, SLC27A4, SLURP1, SNAP29, SPINK5, ST14, STS, SUMF1, TAT, TGM1, TGM5, TRPV3, VPS33B, WNT10A
    Enfermedades de la pielEpidermolisis bullosa y desordenes ampollosos geneticos relacionados (19 genes, DRM05)COL17A1, COL7A1, DSP, DST, EXPH5, FERMT1, ITGA3, ITGA6, ITGB4, KRT1, KRT10, KRT14, KRT5, LAMA3, LAMB3, LAMC2, MMP1, PKP1, PLEC
    Enfermedades de la pielEnfermedades de tejido conectivo: Sindrome Ehlers-Danlos, Sindrome Marfan, Sindrome Loeys-Dietz, aneurisma toracico aortico y desordenes relacionados (44 genes, DRM07)ABCC6, ACTA2, ADAMTS2, ALDH18A1, ATP6V0A2, ATP7A, B3GALT6, B4GALT7, CHST14, COL1A1, COL1A2, COL3A1, COL4A1, COL5A1, COL5A2, DSE, EFEMP2, ELN, FBLN5, FBN1, FBN2, FKBP14, GORAB, LTBP4, MAT2A, MFAP5, MYH11, MYLK, PLOD1, PLOD3, PRDM5, PRKG1, PYCR1, RIN2, SKI, SLC2A10, SLC39A13, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2, TNXB, ZNF469
    Enfermedades de la pielDisplasia ectodermica, agenesia dental selectiva, tricotiodistrofia e hipotricosis (55 genes, DRM08)ANTXR1, APCDD1, AXIN2, BANF1, BCS1L, CDH3, CDSN, CTSC, CYP26C1, DLX3, DSG4, DSP, EDA, EDAR, EDARADD, FGF10, FGFR2, FGFR3, GJA1, GJB6, GRHL2, GTF2H5, HOXC13, HR, IFT122, IFT43, KCTD1, KRT14, KRT74, KRT81, KRT83, KRT85, KRT86, LIPH, LPAR6, MPLKIP, MSX1, NFKBIA, OFD1, PIGL, PKP1, PORCN, PVRL1, PVRL4, SHOC2, SNRPE, SOX18, ST14, TP63, TRPS1, TWIST2, UBR1, WDR19, WDR35, WNT10A
    Enfermedades de la pielDisqueratosis congenita (10 genes, DRM09)CTC1, DKC1, NHP2, NOP10, RTEL1, TERC, TERT, TINF2, USB1, WRAP53
    Enfermedades de la pielFotodermatosis: Xeroderma pigmentosa, Sindrome Cockayne, Sindrome COFS y desordenes relacionados (45 genes, DRM10)AKT1, ATM, AXIN2, BLM, CTC1, CYLD, DDB2, DKC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, FERMT1, FLCN, GTF2H5, MLH1, MSH2, MSH6, NF1, NF2, NHP2, NOP10, PDGFRB, PIK3CA, PMS2, POLH, PRKAR1A, PTCH1, PTEN, RECQL4, RHBDF2, RTEL1, SDHB, SDHD, STK11, TERC, TERT, TINF2, TSC1, TSC2, WRAP53, XPA, XPC
    Enfermedades de la pielNeurofibromatosis/ Schwannomatosis (23 genes, DRM11)A2ML1, AKT3, BRAF, CBL, CCND2, HRAS, KRAS, MAP2K1, MAP2K2, NF1, NRAS, PIK3CA, PIK3R2, PTPN11, RAF1, RASA1, RASA2, RIT1, RRAS, SHOC2, SOS1, SPRED1, STAMBP
    Enfermedades de la pielDesordenes vasculares: telangiectasia hereditaria hemorragica, malformaciones cavernosas cerebrales, asociacion con MoyaMoya, y desordenes relacionados (18 genes, DRM12)ACVRL1, CCBE1, CCM2, ENG, FAT4, FLT4, FOXC2, GATA2, GDF2, GJC2, KIF11, KRIT1, PDCD10, RASA1, SERPING1, SOX18, TREX1, VEGFC
    Enfermedades de la pielSindromes de Progeria and Lipodistrofias (18 genes, DRM13)ALDH18A1, B4GALT7, BANF1, BLM, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, GTF2H5, LMNA, POLD1, PTDSS1, PYCR1, RECQL4, WRN, ZMPSTE24
    HipoacusiaHipoacusia, no sindromica, autosomica recesiva y ligada al X (71 genes, EAR01)ADCY1, BDP1, BSND, CABP2, CDC14A, CDH23, CIB2, CLDN14, CLIC5, COL11A2, COL4A6, DCDC2, DFNB31, DFNB59, EPS8, EPS8L2, ESPN, ESRRB, FAM65B, GIPC3, GJB2, GJB3, GJB6, GPRASP2, GPSM2, GRXCR1, GRXCR2, HGF, ILDR1, KARS, LHFPL5, LOXHD1, LRTOMT, MARVELD2, MSRB3, MYO15A, MYO3A, MYO6, MYO7A, NARS2, OTOA, OTOF, OTOG, OTOGL, PCDH15, PDZD7, PNPT1, POU3F4, PRPS1, PTPRQ, RDX, S1PR2, SERPINB6, SLC26A4, SLC26A5, SLITRK6, SMPX, STRC, SYNE4, TBC1D24, TECTA, TMC1, TMC2, TMEM132E, TMIE, TMPRSS3, TPRN, TRIOBP, TSPEAR, USH1C, WBP2
    HipoacusiaHipoacusia, no sindromica, autosomica dominante y ligada al X (40 genes, EAR02)ACTG1, CCDC50, CD164, CEACAM16, COCH, COL11A2, COL4A6, CRYM, DFNA5, DIABLO, DIAPH1, DIAPH3, DSPP, ESPN, EYA4, GJB2, GJB3, GJB6, GRHL2, KCNQ4, KITLG, MIR96, MYH14, MYH9, MYO6, MYO7A, OSBPL2, P2RX2, POU3F4, POU4F3, PRPS1, SLC17A8, SMPX, TBC1D24, TECTA, TJP2, TMC1, TMC2, TNC, WFS1
    HipoacusiaHipoacusia sindromica (80 genes, EAR03)ABHD12, AIFM1, ALMS1, ANKH, ATP6V1B1, BCAP31, BCS1L, BSND, C10ORF2, CACNA1D, CATSPER2, CD151, CDH23, CDKN1C, CHD7, CHSY1, CIB2, CISD2, CLPP, CLRN1, COL11A1, COL11A2, COL2A1, COL4A3, COL4A4, COL4A5, COL4A6, COL9A1, COL9A2, DFNB31, DNMT1, EDN3, EDNRB, EXOSC2, EYA1, FGF3, FOXI1, GATA3, GPR98, GPSM2, HARS, HARS2, HOXB1, HSD17B4, KCNE1, KCNJ10, KCNQ1, KITLG, LARS2, MANBA, MITF, MYH9, MYO7A, NDP, NLRP3, PAX3, PCDH15, PDZD7, PEX1, PEX6, POLR1C, POLR1D, SALL1, SEMA3E, SIX1, SIX5, SLC19A2, SLC26A4, SLITRK6, SNAI2, SOX10, SPATA5, TCOF1, TFAP2A, TIMM8A, TYR, USH1C, USH1G, USH2A, WFS1
    EpilepsiaEpilepsia familial e idiopatica (29 genes, EPI01)ALDH7A1, CACNA1A, CHRNA2, CHRNA4, CHRNB2, DEPDC5, GABRA1, GABRB3, GABRG2, GRIN2A, KCNA1, KCNMA1, KCNQ2, KCNQ3, KCNT1, LGI1, MTOR, NPRL2, NPRL3, PCDH19, PRRT2, RELN, RORB, SCN1A, SCN1B, SCN2A, SCN8A, SLC1A3, SLC2A1, STX1B, TBC1D24
    EpilepsiaEpilepsia y retraso en el desarrollo (incluye Encefalopatia Epilepticas) (97 genes, EPI02)AARS, ALDH7A1, ALG13, AMT, AP3B2, ARHGEF9, ARV1, ARX, BRAT1, CACNA1A, CAD, CASK, CDKL5, CHD2, CLCN4, CNNM2, DDX3X, DENND5A, DNM1, DOCK7, EEF1A2, FGF12, FOXG1, FRRS1L, GABRA1, GABRB1, GABRB2, GABRB3, GAMT, GLDC, GNAO1, GNB1, GRIN1, GRIN2A, GRIN2B, GRIN2D, HACE1, HCN1, HNRNPU, IQSEC2, ITPA, KCNA2, KCNB1, KCNQ2, KCNT1, KIAA2022, MBD5, MBOAT7, MDH2, MECP2, MEF2C, MOCS1, MOCS2, NECAP1, PACS2, PCDH19, PIGA, PLCB1, PLPBP, PNKP, PNPO, POLG, PURA, QARS, ROGDI, SCN1A, SCN2A, SCN8A, SIK1, SLC12A5, SLC13A5, SLC1A2, SLC25A12, SLC25A22, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMC1A, SPTAN1, ST3GAL3, ST3GAL5, STXBP1, SYNGAP1, SYNJ1, SZT2, TBC1D24, TCF4, TPP1, TSC1, TSC2, UBA5, UBE3A, WDR45, WWOX, ZEB2
    EpilepsiaEpilepsia mioclonica progresiva y Lipofuscinosis Neuronal Ceroide (28 genes, EPI05)AFG3L2, ASAH1, ATP13A2, CARS2, CERS1, CLN3, CLN5, CLN6, CLN8, CSTB, CTSD, CTSF, DNAJC5, EPM2A, GOSR2, GRN, KCNC1, KCTD7, LMNB2, MFSD8, NEU1, NHLRC1, PPT1, PRDM8, PRICKLE1, SCARB2, SERPINI1, TPP1
    EpilepsiaDeficiencia del ancla GPI con o sin hiperfosfatasia (13 genes, EPI12)PGAP1, PGAP2, PGAP3, PIGA, PIGG, PIGL, PIGM, PIGN, PIGO, PIGT, PIGV, PIGW, PIGY
    EpilepsiaMigraña (9 genes, EPI14)ATP1A2, ATP1A3, CACNA1A, NOTCH3, POLG, PRRT2, SCN1A, SLC1A3, SLC2A1
    EpilepsiaHiperekplexia Hereditaria (3 genes, EPI15)GLRA1, GLRB, SLC6A5
    EpilepsiaEpilepsia Metabolica/Mitocondrial (100 genes, EPI19)AARS2, ABAT, ABCC8, ACY1, ADCK3, ADK, ADSL, ALDH5A1, ALDH7A1, AMT, ATIC, AUH, BCKDHA, BCKDHB, BCKDK, BCS1L, BTD, CAD, CARS2, CNNM2, COQ4, COX8A, CPT1A, CPT2, D2HGDH, DARS2, DBT, DHFR, DLD, DNM1L, DPYD, EARS2, ETFA, ETFB, ETFDH, ETHE1, FARS2, FOLR1, FOXRED1, GAMT, GATM, GCDH, GCH1, GCK, GCSH, GFM1, GLDC, GLUD1, GLUL, GPHN, HADH, HLCS, HPD, IDH2, INSR, ITPA, IVD, KCNJ11, L2HGDH, LIAS, MDH2, MLYCD, MMACHC, MOCS1, MOCS2, MT-ATP6 (m.8993T>G/C), MT-TK (m.8344A>G), MT-TL1 (m.3243A>G, m.3271T>C), MTHFR, NARS2, NDUFA1, PC, PCBD1, PCCA, PCCB, PDHA1, PDHX, PDSS2, PET100, PHGDH, PLPBP, PNPO, POLG, PSAT1, PSPH, PTS, QDPR, SDHA, SLC16A1, SLC19A3, SLC1A2, SLC25A1, SLC2A1, SLC46A1, SLC6A8, SLC6A9, SUOX, SURF1, TWNK, VARS2
    Enfermedades metabolicasDesordenes congenitos de la glicosilacion (Sindrome CDG) (48 genes, MET01)
    ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, B4GALT1, CAD, CCDC115, COG1, COG2, COG4, COG5, COG6, COG7, COG8, DDOST, DHDDS, DOLK, DPAGT1, DPM1, DPM2, DPM3, GMPPA, MAN1B1, MGAT2, MOGS, MPDU1, MPI, NGLY1, NUS1, PGM1, PMM2, RFT1, SLC35A1, SLC35A2, SLC35C1, SLC39A8, SRD5A3, SSR4, STT3A, STT3B, TMEM165, TMEM199, TUSC3
    Enfermedades metabolicasDesordenes lisosomales (38 genes, MET02)AGA, ARSA, ARSB, CTNS, CTSA, FUCA1, GALC, GALNS, GBA, GLA, GLB1, GM2A, GNPTAB, GNPTG, GNS, GUSB, HEXA, HEXB, HGSNAT, HYAL1, IDS, IDUA, LIPA, MAN1B1, MAN2B1, MANBA, MCOLN1, NAGA, NAGLU, NEU1, NPC1, NPC2, PSAP, SGSH, SLC17A5, SMPD1, SUMF1, VPS33A
    Enfermedades metabolicasDesordenes de la biogenesis peroxisomal: Desordenes del espectro Zellweger (19 genes, MET03)ABCD1, ACOX1, AMACR, HSD17B4, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, SCP2
    Enfermedades metabolicasEpelipsia dependiente de Piroxidina y acido folico (7 genes, MET04)ALDH7A1, DHFR, FOLR1, MTHFR, PLPBP, PNPO, SLC46A1
    Enfermedades metabolicasDesordenes del ciclo de la urea (8 genes, MET05)ARG1, ASL, ASS1, CPS1, NAGS, OTC, SLC25A13, SLC25A15
    Enfermedades metabolicasEncefalopatia por glicina (5 genes, MET06)AMT, GCSH, GLDC, LIAS, SLC6A9
    Enfermedades metabolicasHiperfenilalaninemia (6 genes, MET07)DNAJC12, GCH1, PAH, PCBD1, PTS, QDPR
    Enfermedades metabolicasEnfermedad de orina con olor a jaraba de arce y deficiencia de DLD (4 genes, MET08)BCKDHA, BCKDHB, DBT, DLD
    Enfermedades metabolicasCofactor molibdeno y deficiencia de sulfito oxidadasa (4 genes, MET09)GPHN, MOCS1, MOCS2, SUOX
    Enfermedades metabolicasAcidemia metilmalonica (15 genes, MET10)ABCD4, ACSF3, ALDH6A1, CD320, HCFC1, LMBRD1, MCEE, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MUT, SUCLA2, SUCLG1
    Enfermedades metabolicasAciduria 3-Metilglutaconica (6 genes, MET11)AUH, CLPB, DNAJC19, OPA3, SERAC1, TAZ
    Enfermedades metabolicasHipoglicemia Hiperinsulinemica (7 genes, MET12)ABCC8, GCK, GLUD1, HADH, INSR, KCNJ11, SLC16A1
    Enfermedades metabolicasDiabetes tipo MODY (Maturity-onset diabetes of the young) (12 genes, MET13)ABCC8, BLK, CEL, GCK, HNF1A, HNF1B, HNF4A, INS, KLF11, NEUROD1, PAX4, PDX1
    Enfermedades metabolicasDesordenes del almacenamiento de glicogeno (23 genes, MET14)AGL, ALDOA, ENO3, FBP1, G6PC, GAA, GBE1, GYG1, GYS1, GYS2, LAMP2, LDHA, PFKM, PGAM2, PHKA1, PHKA2, PHKB, PHKG2, PRKAG2, PYGL, PYGM, SLC2A2, SLC37A4
    Enfermedades metabolicasDesordenes de la oxidacion de acidos grasos (15 genes, MET15)ACADM, ACADS, ACADSB, ACADVL, CPT1A, CPT2, ETFA, ETFB, ETFDH, HADH, HADHA, HMGCL, HMGCS2, SLC22A5, SLC25A20
    Desordenes del desarrollo cerebralMicrocefalia e hipoplasia pontocerebelar (71 genes, BRN01)AMPD2, ANKLE2, ASNS, ASPM, ATR, BRF1, CASK, CDC45, CDC6, CDK5RAP2, CDK6, CDT1, CENPE, CENPJ, CEP135, CEP152, CEP63, CHMP1A, CIT, CKAP2L, CLP1, DYRK1A, EIF2S3, EXOSC3, EXOSC8, FOXG1, GMNN, IER3IP1, KAT6A, KIF11, KNL1, MBD5, MCPH1, MFSD2A, NIN, NSMCE2, ORC1, ORC4, ORC6, PCLO, PHC1, PLK4, PNKP, PPP1R15B, PQBP1, QARS, RARS2, RBBP8, SASS6, SEPSECS, SLC1A4, SLC25A19, SMARCA2, SPATA5, STAMBP, STIL, TOE1, TRAIP, TRMT10A, TSEN15, TSEN2, TSEN34, TSEN54, TUBGCP4, TUBGCP6, VLDLR, VPS53, VRK1, WDR62, WDR73, ZNF335
    Desordenes del desarrollo cerebralDesordenes de la migracion neuronal (72 genes, BRN02)CTB, ACTG1, ADGRG1, AKT3, ARFGEF2, ARX, B3GALNT2, B3GNT1, CCND2, CDK5, COL4A1, COL4A2, CRADD, DAG1, DCHS1, DCX, DDX3X, DYNC1H1, EMX2, ERMARD, FAT4, FH, FKRP, FKTN, FLNA, GMPPB, GRIN1, GRIN2B, IER3IP1, ISPD, KATNB1, KIF1BP, KIF2A, KIF5C, LAMB1, LAMC3, LARGE, MEF2C, MTOR, NDE1, NEDD4L, OCLN, PAFAH1B1, PI4KA, PIK3CA, PIK3R2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PRUNE1, RAB18, RAB3GAP1, RAB3GAP2, RELN, RTTN, SHH, SIX3, TBC1D20, TMEM5, TMTC3, TUBA1A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBG1, VLDLR, WDR62, WDR81
    Desordenes del desarrollo cerebralEspectro de holoproscenfefalia (9 genes, BRN03)CDON, FGFR1, GLI2, PTCH1, SHH, SIX3, TDGF1, TGIF1, ZIC2
    Desordenes del desarrollo cerebralMacrocefalia (53 genes, BRN04)AKT2, AKT3, APC2, ASPA, ASXL2, BRAF, BRWD3, CCDC88C, CCND2, CRADD, CUL4B, DNMT3A, EED, EZH2, FIBP, GCDH, GFAP, GPC3, HEPACAM, HERC1, HRAS, HUWE1, IGF2, KPTN, KRAS, L1CAM, MAP2K1, MAP2K2, MED12, MLC1, MTOR, NFIX, NRAS, NSD1, PHF6, PIGA, PIGN, PIGT, PIK3CA, PIK3R2, PPP2R5B, PPP2R5C, PPP2R5D, PTCH1, PTEN, RAB39B, RIN2, RNF125, RNF135, SETD2, SOS1, STRADA, TBC1D7
    Desordenes del desarrollo cerebralLeucodistrofia/Leucoencefalopatia (77 genes, BRN05)AARS, AARS2, ABCD1, ACOX1, ADAR, AIMP1, ALDH3A2, ARSA, ASPA, BCAP31, CLCN2, CSF1R, CTC1, CYP27A1, DARS, DARS2, EARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, FAM126A, FUCA1, GALC, GBE1, GCDH, GFAP, GJC2, HEPACAM, HIKESHI, HSD17B4, HSPD1, HTRA1, IFIH1, L2HGDH, LMNB1, MLC1, NAXE, NOTCH3, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PLEKHG2, PLP1, POLR1C, POLR3A, POLR3B, PSAP, PYCR2, RARS, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, SAMHD1, SCP2, SLC16A2, SLC17A5, SNORD118, SOX10, STN1, SUMF1, TREX1, TUBB4A, VPS11
    Desordenes del desarrollo cerebralSindrome Aicardi-Goutières (7 genes, BRN06)ADAR, IFIH1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, TREX1
    Desordenes del desarrollo cerebralSindrome Cornelia de Lange (6 genes, BRN08)HDAC8, NIPBL, RAD21, SMC1A, SMC3, UBE2A
    Desordenes del desarrollo cerebralMicroangiopatias Cerebrales (12 genes, BRN09)CCM2, COL4A1, COL4A2, CTC1, GLA, HTRA1, KRIT1, NOTCH3, PDCD10, SNORD118, STN1, TREX1
    Desordenes del desarrollo cerebralLeucodistrofia/Leucoencefalopatia y diagnosticos diferenciales (131 genes, BRN10)AARS, AARS2, ABCD1, ACOX1, ADAR, AIMP1, ALDH3A2, APOPT1, ARSA, ASPA, BCAP31, BOLA3, CLCN2, COL4A1, COL4A2, CSF1R, CTC1, CYP27A1, DARS, DARS2, EARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ERCC6, ERCC8, FA2H, FAM126A, FKRP, FKTN, FOLR1, FUCA1, GALC, GAN, GBE1, GCDH, GFAP, GJC2, GLA, GLB1, GLRX5, GMPPB, HEPACAM, HEXA, HIKESHI, HSD17B4, HSPD1, HTRA1, IBA57, IDS, IFIH1, ISCA2, KCNT1, KIF5A, L2HGDH, LAMA2, LARGE, LMNB1, LYRM7, MCOLN1, MLC1, MTFMT, NAXE, NDUFS1, NDUFV1, NEU1, NFU1, NOTCH3, NPC1, NPC2, OCLN, PC, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHGDH, PLA2G6, PLAA, PLEKHG2, PLP1, POLG, POLR1C, POLR3A, POLR3B, POMGNT1, POMT1, POMT2, PPT1, PSAP, PSAT1, PYCR2, RARS, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, SAMHD1, SCP2, SDHA, SDHAF1, SLC16A2, SLC17A5, SLC1A4, SLC25A12, SNORD118, SOX10, SPTAN1, STN1, SUMF1, SURF1, TPP1, TREM2, TREX1, TUBB4A, TUFM, TYMP, TYROBP, VPS11
    Desordenes del desarrollo cerebralSindrome Coffin-Siris (6 genes, BRN12)ARID1A, ARID1B, SMARCA4, SMARCB1, SMARCE1, SOX11
    Enfermedades ocularesSindrome Usher (14 genes, EYE01)ABHD12, CDH23, CEP78, CIB2, CLRN1, DFNB31, GPR98, HARS, MYO7A, PCDH15, PDZD7, USH1C, USH1G, USH2A
    Enfermedades ocularesRetinitis pigmentosa, autosomica dominante y ligada al X (28 genes, EYE02)BEST1, CA4, CACNA1F, CRX, GUCA1B, HK1, IMPDH1, KLHL7, NR2E3, NRL, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, RDH12, RGR, RHO, ROM1, RP1, RP2, RP9, RPE65, RPGR, SEMA4A, SNRNP200, TOPORS
    Enfermedades ocularesRetinitis pigmentosa, autosomica recesiva y ligada al X (60 genes, EYE03)ABCA4, AGBL5, AHI1, ARL2BP, ARL6, BBS1, BBS2, BEST1, C2ORF71, C8ORF37, CACNA1F, CDHR1, CEP290, CERKL, CLN3, CNGA1, CNGB1, CRB1, CYP4V2, DHDDS, EYS, FAM161A, FLVCR1, GNAT1, GUCY2D, HGSNAT, IFT140, IFT172, IMPG2, KIZ, LRAT, MAK, MERTK, MFRP, NR2E3, NRL, PDE6A, PDE6B, PDE6G, POMGNT1, PRCD, PROM1, PRPF31, RBP3, RDH12, REEP6, RGR, RHO, RLBP1, RP1, RP1L1, RP2, RPE65, RPGR, RPGRIP1, SAG, SLC7A14, SPATA7, TULP1, USH2A
    Enfermedades ocularesAcromatopsia (6 genes, EYE04) 1.) CNGB3 (Ex. 10)
    Enfermedades ocularesAcromatopsia (6 genes, EYE04) 2.) ATF6, CNGA3, CNGB3, GNAT2, PDE6C, PDE6H
    Enfermedades ocularesSindrome Bardet-Biedl (19 genes, EYE05)ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, C8ORF37, CEP290, IFT172, LZTFL1, MKKS, MKS1, NPHP1, SDCCAG8, TTC8
    Enfermedades ocularesCeguera nocturna estacionaria congenita (14 genes, EYE06)CABP4, CACNA1F, GNAT1, GPR179, GRK1, GRM6, LRIT3, NYX, PDE6B, RBP4, RHO, SAG, SLC24A1, TRPM1
    Enfermedades ocularesSindrome Joubert (31 genes, EYE07)AHI1, ARL13B, ARMC9, B9D1, C2CD3, C5ORF42, CC2D2A, CEP104, CEP120, CEP290, CEP41, CSPP1, INPP5E, KIAA0556, KIAA0586, KIF7, MKS1, NPHP1, OFD1, PDE6D, RPGRIP1L, SUFU, TCTN1, TCTN2, TCTN3, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, ZNF423
    Enfermedades ocularesAumaurosis congenita de Leber (22 genes, EYE08)AIPL1, ALMS1, CEP290, CRB1, CRX, GUCY2D, IFT140, IMPDH1, IQCB1, KCNJ13, LCA5, LRAT, MERTK, NMNAT1, OTX2, PRPH2, RD3, RDH12, RPE65, RPGRIP1, SPATA7, TULP1
    Enfermedades ocularesEspectro de Sindrome Zellweger (Refsum/Zellweger/adrenoleucodistrofia neonatal) (15 genes, EYE10)PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH
    Enfermedades ocularesSindrome Senior Loken (12 genes, EYE11)CEP164, CEP290, IFT81, INVS, IFTIQCB1, NPHP1, NPHP3, NPHP4, SDCCAG8, TRAF3IP1, WDR19, ZNF423
    Enfermedades ocularesEnfermedad de Stargardt y distrofias maculares (21 genes, EYE12)ABCA4, BEST1, C1QTNF5, CDH3, CFH, CLN3, CNGB3, CRX, CTNNA1, DRAM2, ELOVL4, IMPG1, IMPG2, IRX1, MFSD8, PROM1, PRPH2, RP1L1, RPGR, TIMP3, TTLL5
    Enfermedades ocularesDistrofias de conos y bastones (39 genes, EYE13)ABCA4, ADAM9, AIPL1, ALMS1, ATF6, C21ORF2, C2ORF71, C8ORF37, CABP4, CACNA1F, CACNA2D4, CDHR1, CEP78, CERKL, CNGA3, CNGB3, CNNM4, CRB1, CRX, GNAT2, GUCA1A, GUCY2D, KCNV2, NMNAT1, PCYT1A, PDE6C, PDE6H, PITPNM3, POC1B, PROM1, PRPH2, RAB28, RAX2, RDH12, RIMS1, RPGR, RPGRIP1, SEMA4A, TTLL5
    Enfermedades ocularesDesordenes de maculas en retina (10 genes, EYE14)CHM, EFEMP1, PLA2G5, PRPH2, RDH5, RHO, RLBP1, RPE65, RS1, VPS13B
    Enfermedades ocularesVitreoretinopatias (Wagner syndrome/Norrie/Coats) (14 genes, EYE15)ATOH7, BEST1, CAPN5, COL2A1, CTNNB1, FZD4, KCNJ13, KIF11, LRP5, NDP, RCBTB1, TSPAN12, VCAN, ZNF408
    Enfermedades ocularesSindrome Stickler (6 genes, EYE16)COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3
    Enfermedades ocularesAtrofia Óptica (incluye LHON (Neuropatia optica hereditaria de Leber) (15 genes, EYE17)ACO2, AFG3L2, ANTXR1, C12ORF65, CISD2, DNM1L, FDXR, MFN2, MT-ND1, m.3460G>A; MT-ND4, m.11778G>A; MT-ND6, m.14484T>C, NR2F1, OPA1, OPA3, RTN4IP1, SLC25A46, SPG7, TIMM8A, TMEM126A, WFS1, YME1L1
    Enfermedades ocularesAlbinismo oculocutaneo (8 genes, EYE18)C10orf11, GPR143, MC1R, OCA2, SLC24A5, SLC45A2, TYR, TYRP1
    Enfermedades ocularesAlbinism sindromico (Hermansky-Pudlak/Waardenburg/Vici/Griscelli) (20 genes, EYE19)AP3B1, BLOC1S3, BLOC1S6, DTNBP1, EDN3, EDNRB, EPG5, HPS1, HPS3, HPS4, HPS5, HPS6, LYST, MITF, MLPH, MYO5A, PAX3, RAB27A, SOX10, TYR
    Enfermedades ocularesMalformaciones oculares (microftalmia/anoftalmia/nanoftalmia/coloboma) (32 genes, EYE20)ABCB6, ALDH1A3, ATOH7, BCOR, BMP4, CHD7, FOXE3, FREM1, GDF3, GDF6, HCCS, HMX1, MAB21L2, MFRP, OTX2, PAX2, PAX6, PIGL, POMGNT1, PRSS56, RARB, RAX, RBP4, SHH, SIX6, SMOC1, SOX2, STRA6, TENM3, TMEM98, VAX1, VSX2
    Enfermedades ocularesCataratas (58 genes, EYE21)ABHD12, AGK, BCOR, BFSP1, BFSP2, CHMP4B, CLPB, COL4A1, CRYAA, CRYAB, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGC, CRYGD, CRYGS, CTDP1, CYP27A1, CYP51A1, EPG5, EPHA2, EYA1, FAM126A, FOXE3, FTL, FYCO1, GALK1, GALT, GCNT2, GJA3, GJA8, HSF4, LEMD2, LEPREL1, LIM2, LSS, MAF, MIP, MIR184, NDP, NHS, OCRL, OPA3, PAX6, PEX7, PITX3, PXDN, RAB3GAP1, RECQL4, SIL1, SIPA1L3, SLC16A12, TDRD7, VIM, VSX2, WRN
    Enfermedades ocularesDisplasia septo-optica (6 genes, EYE22)FGFR1, HESX1, OTX2, PROKR2, SOX2, SOX3
    Enfermedades ocularesGlaucoma (12 genes, EYE23)CYP1B1, FOXC1, FOXE3, LTBP2, MYOC, NTF4, OPTN, PAX6, PITX2, TBK1, TEK, WDR36
    Enfermedades ocularesDistrofias corneales (21 genes, EYE24)AGBL1, CHST6, COL17A1, COL8A2, CYP4V2, DCN, GSN, KRT12, KRT3, LOXHD1, OVOL2, PIKFYVE, PRDM5, SLC4A11, TACSTD2, TCF4, TGFBI, UBIAD1, VSX1, ZEB1, ZNF469
    Enfermedades ocularesEctopia lentis (2 genes, EYE25)ADAMTSL4, FBN1
    Enfermedades cardiacasCardiomiopatia, dilatada (43 genes, HRT01)ABCC9, ACTC1, ACTN2, ANKRD1, BAG3, CRYAB, CSRP3, DES, DMD, DSG2, DSP, EMD, EYA4, FKTN, GATAD1, LAMA4, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYPN, NEBL, NEXN, PDLIM3, PLN, PRDM16, RAF1, RBM20, SCN5A, SDHA, SGCD, TAZ, TCAP, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL
    Enfermedades cardiacasCardiomiopatia, hipertrofica (30 genes, HRT02)ACTC1, ACTN2, ANKRD1, CALR3, CAV3, CSRP3, FHL1, GLA, JPH2, LAMP2, LDB3, MYBPC3*, MYH6, MYH7*, MYL2, MYL3, MYLK2, MYOZ2, MYPN, NEXN, PLN, PRKAG2, TCAP, TNNC1, TNNI3, TNNT2*, TPM1, TTN, TTR, VCL
    Enfermedades cardiacasCardiomiopatia, restrictiva (7 genes, HRT12)ACTC1, BAG3, DES, MYH7, MYPN, TNNI3, TNNT2
    Enfermedades cardiacasCardiomiopatia de ventriculo izquierdo no compacto (LVNC) (11 genes, HRT03)ACTC1, DTNA, LDB3, LMNA, MIB1, MYBPC3, MYH7, PRDM16, TAZ, TNNT2, TPM1
    Enfermedades cardiacasFibrilacion auricular y sindrome de QT corto (17 genes, HRT04)ABCC9, CACNA1C, CACNA2D1, CACNB2, GJA5, KCNA5, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, NPPA, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A
    Enfermedades cardiacasSindrome de QT largo (15 genes, HRT05)AKAP9, ANK2, CACNA1C, CALM1, CALM2, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, SCN4B, SCN5A, SNTA1
    Enfermedades cardiacasDisplasia arritmogenica de ventriculo derecho/ cardiomiopatia (ARVD/C) (13 genes, HRT06)CTNNA3, DES, DSC2, DSG2, DSP, JUP, LMNA, PKP2, PLN, RYR2, TGFB3, TMEM43, TTN
    Enfermedades cardiacasSindrome Brugada (13 genes, HRT07)CACNA1C, CACNA2D1, CACNB2, GPD1L, HCN4, KCND3, KCNE3, KCNJ8, SCN10A, SCN1B, SCN3B, SCN5A, TRPM4
    Enfermedades cardiacasTaquicardia ventricular polimorfica catecolaminergica (CPVT), paroxistica/ fibrilacion ventricular idiopatica / taquicardia (10 genes, HRT08)ANK2, CALM1, CALM2, CASQ2, DPP6, GNAI2, KCNJ2, RYR2, SCN5A, TRDN
    Enfermedades cardiacasCardiopatias congenitas (44 genes, HRT09)ACTC1, ACVR2B, CCDC11, CFC1, CHD7, CITED2, CRELD1, ELN, FLNA, FOXC1, FOXH1, GATA4, GATA5, GATA6, GDF1, GJA1, GJA5, IRX4, JAG1, LEFTY2, MED13L, MYH6, MYH7, NAA15, NKX2-5, NKX2-6, NODAL, NOTCH1, NOTCH2, NR2F2, PITX2, RBM10, SEMA3E, SMAD2, SMAD6, TAB2, TBX1, TBX20, TBX3, TBX5, TFAP2B, TLL1, ZFPM2, ZIC3
    Enfermedades cardiacasRASopatias (23 genes, HRT10)Síndrome Noonan, Síndrome Noonan-like, Síndrome Costello, Síndrome Cardiofaciocutáneo, Síndrome Legius, Síndrome LEOPARD, Neurofibromatosis tipo 1, Síndrome de Megalencefalia- Malformación capilar- polimicrogiria, Malfromación capilar- Malformación arteriovenosa, Síndrome de microcefalia- malformación capilar, Síndrome de megalencefalia-polimicrogiria-polidactilia-hidrocefalia: A2ML1, AKT3, BRAF, CBL, CCND2, HRAS, KRAS, MAP2K1, MAP2K2, NF1, NRAS, PIK3CA, PIK3R2, PTPN11, RAF1, RASA1, RASA2, RIT1, RRAS, SHOC2, SOS1, SPRED1, STAMBP
    Enfermedades de canales ionicosAtaxia Episodica (9 genes, ION01)CACNA1A, CACNB4, KCNA1, SLC1A3, SLC2A1, FGF14, KCNQ2, SCN2A, ATP1A3
    Enfermedades de canales ionicosSindromes de dolor neuropatico (4 genes, ION06)SCN9A, SCN10A, SCN11A, TRPA1
    Enfermedades de canales ionicosDiscinesis paroxisticas (7 genes, ION07)PRRT2, SLC2A1, SCN8A, KCNMA1, PNKD, ADCY5, ATP1A3
    Enfermedades de canales ionicosHipertermia maligna (3 genes, ION10)RYR1, CACNA1S, STAC3
    Enfermedades renalesNefronoptisis (29 genes, KID01)AHI1, ANKS6, ATXN10, CC2D2A, CEP164, CEP290, CEP83, CTNS, DCDC2, FAN1, GLIS2, INVS, IQCB1, MAPKBP1, NEK8, NPHP1, NPHP3, NPHP4, RPGRIP1L, SDCCAG8, SLC41A1, TMEM216, TMEM67, TRAF3IP1, TTC21B, WDR19, WDR35, XPNPEP3, ZNF423
    Enfermedades renalesEnfermedad renal quistica (16 genes, KID02)ANKS6, BICC1, ETFA, GANAB, HNF1B, INVS, LRP5, NPHP3, OFD1, PAX2, PKD1, PKD2, PKHD1, PMM2, SEC61A1, UMOD
    Enfermedades renalesEnfermedad renal quistica (16 genes, KID02)PKD1/PKD2 sequencing
    Enfermedades renalesDisgenesia tubular renal (4 genes, KID03)ACE, AGT, AGTR1, REN
    Enfermedades renalesDisplasia renal, agenesia renal, CAKUT (48 genes, KID04)ALDH1A2, BICC1, BMP4, BMP7, CDC5L, CHD1L, DACH1, DSTYK, EYA1, FGF20, FIBP, FOXC1, FRAS1, FREM1, FREM2, GATA3, GDNF, GREM1, GRIP1, HNF1B, ITGA8, KIF14, NEK8, NPHP3, OSR1, PAX2, RET, ROBO2, SALL1, SDCCAG8, SIX1, SIX2, SIX5, SLIT2, SOX17, SPRY1, SRGAP1, TBC1D1, TBX18, TFAP2A, TNS3, TRAP1, UMOD, UPF3B, UPK3A, WNT4, WNT5A, WT1
    Enfermedades renalesSindrome nefrotico (40 genes, KID05)ACTN4, ADCK4, ANLN, APOE, APOL1, ARHGAP24, ARHGDIA, CD2AP, COQ2, COQ6, CRB2, CUBN, DGKE, EMP2, FAT1, INF2, ITGA3, ITGB4, KANK1, KANK2, KANK4, LAMB2, LMX1B, MAGI2, MYH9, MYO1E, NPHS1, NPHS2, NUP107, NUP205, NUP93, PDSS2, PLCE1, PTPRO, SMARCAL1, TRPC6, TTC21B, WDR73, WT1, XPO5
    Enfermedades renalesGlomeruloesclerosis focal segmentaria (40 genes, KID06)ACTN4, ADCK4, ANLN, APOL1, ARHGAP24, CD2AP, COL4A3, COL4A4, COL4A5, COQ2, COQ6, CRB2, FBXW7, INF2, LAMA5, LAMB2, LMNA, LMX1B, MYH9, MYO1E, NPHP1, NPHP4, NPHS1, NPHS2, NXF5, PAX2, PDSS2, PLCE1, SYNPO, TRPC6, TTC21B, WT1
    Enfermedades renalesSindrome Alport y desordenes de membrana basal glomerular (GBM) (7 genes, KID07)CD151, COL4A3, COL4A4, COL4A5, FN1, MYH9, PXDN
    Enfermedades renalesDeficiencia C1q (3 genes, KID08)C1QA, C1QB, C1QC
    Enfermedades renalesAcidosis tubular renal (9 genes, KID09)ATP6V0A4, ATP6V1B1, BCS1L, CA2, OCRL, SLC4A1, SLC4A4, VIPAS39, VPS33B
    Enfermedades renalesSindrome Bartter y diagnosticos diferenciales (17 genes, KID10)BSND, CASR, CLCN5, CLCNKA, CLCNKB, CLDN16, CLDN19, CNNM2, EGF, FXYD2, GNA11, INSR, KCNJ1, MAGED2, SLC12A1, SLC12A3, TRPM6
    Enfermedades renalesRaquitismo hipofosfatemica (15 genes, KID11)ALPL, CLCN5, CYP27B1, CYP2R1, DMP1, ENPP1, FAH, FGF23, KL, OCRL, PHEX, SLC34A1, SLC34A3, SLC9A3R1, VDR
    Enfermedades renalesPseudohipoaldosteronismo (9 genes, KID12)CUL3, HSD11B2, KLHL3, NR3C2, SCNN1A, SCNN1B, SCNN1G, WNK1, WNK4
    Enfermedades renalesDiabetes insipida nefrogenica (3 genes, KID13)AQP2, AVP, AVPR2
    Enfermedades renalesHiperoxaluria (3 genes, KID14)AGXT, GRHPR, HOGA1
    Enfermedades renalesSindrome hemolitico uremico atipico y diagnosticos diferenciales* (19 genes, KID15)ADAMTS13, C3, CD46, CFB, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, CLU, DGKE, MMACHC, MMADHC, MUT, PIGA, PLG, THBD
    Enfermedades renalesAminoacidurias hereditaria primaria (8 genes, KID16)SLC1A1, SLC2A2, SLC36A2, SLC3A1, SLC6A19, SLC6A20, SLC7A7, SLC7A9
    Enfermedades renalesSindrome Branchiootorenal (5 genes, KID17)EYA1, SALL1, SIX1, SIX5, TFAP2A
    Enfermedades renalesSindrome Bardet-Biedl (30 genes, KID18)ALMS1, ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, C8ORF37, CCDC28B, CEP164, CEP290, IFT172, IFT27, IFT74, KIF7, LZTFL1, MKKS, MKS1, NPHP1, SDCCAG8, TMEM67, TRAPPC3, TRIM32, TTC21B, TTC8, WDPCP
    Enfermedades renalesSindrome Joubert (39 genes, KID19)AHI1, ARL13B, ARMC9, B9D1, B9D2, C2CD3, C5ORF42, CC2D2A, CELSR2, CEP104, CEP120, CEP164, CEP290, CEP41, CSPP1, EXOC8, HYLS1, INPP5E, KIAA0556, KIAA0586, KIAA0753, KIF7, MKS1, NPHP1, OFD1, PDE6D, PDPR, PIBF1, RPGRIP1L, TCTN1, TCTN2, TCTN3, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TTC21B, ZNF423
    Enfermedades renalesSindrome Meckel (24 genes, KID20)AHI1, B9D1, B9D2, CC2D2A, CEP120, CEP290, CEP55, CSPP1, KIAA0586, KIF14, MKS1, NPHP3, RPGRIP1L, TCTN1, TCTN2, TMEM107, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TTC21B, TXNDC15, WDPCP
    Enfermedades renalesSindrome Senior-Loken (11 genes, KID21)CEP164, CEP290, INVS, IQCB1, NPHP1, NPHP3, NPHP4, SDCCAG8, TRAF3IP1, WDR19, ZNF423
    Enfermedades hepaticasColestasis familiar (8 genes, LIV01)ABCB11, ABCB4, ABCG5, ABCG8, ATP8B1, DCDC2, MYO5B, NR1H4
    Enfermedades hepaticasHipercolanemia y desordenes de la sintesis de acidos biliares (11 genes, LIV02)ABCD3, AKR1D1, AMACR, BAAT, CYP27A1, CYP7A1, CYP7B1, EPHX1, HSD3B7, SLC10A2, TJP2
    Enfermedades hepaticasDeño en el transporte de hepatocitos y colangiocitos (8 genes, LIV03)ABCC2, ATP7B, CFTR, CIRH1A, SERPINA1, VIL1, VIPAS39, VPS33B
    Enfermedades hepaticasDaño en la morfogenesis de organos (10 genes, LIV04)CC2D2A, CLDN1, INVS, JAG1, NOTCH2, PKD2, PKHD1, RPGRIP1L, TMEM67, ZIC3
    Enfermedades hepaticasDesordenes metabolicos de los hepatocitos, incluyendo tirosinemia, enfermedades de deposito lisosomal, hiperamonemia, sindrome de Shwachman-Diamond, desorden de la oxidacion de acidos grados y enfermedades peroxisomales (59 genes, LIV05)ACADM, ACADVL, ADK, AGL, AGPAT2, ALAD, ALDOB, ASL, ASS1, BSCL2, CCDC115, COG1, COG6, COG7, CPS1, ETFA, ETFB, ETFDH, FAH, G6PC, GAA, GALE, GALT, GBE1, GYS2, IARS, KRT18, KRT8, LMNA, MPI, NGLY1, NR1H4, OTC, PEX1, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PKLR, PMM2, PTRF, PYGL, SBDS, SLC37A4, SLC39A8, STT3B, TTC37
    Enfermedades hepaticasDesordenes de deposito lisosomal (5 genes, LIV06)GBA, LIPA, NPC1, NPC2, SMPD1
    Enfermedades hepaticasFalla hepatica aguda recurrente (6 genes, LIV07)DLD, EIF2AK3, HMGCL, LARS, NBAS, TRMU
    Enfermedades hepaticasMitocondriopatias hepaticas (17 genes, LIV08)BCS1L, C10orf2, CPT1A, CPT2, DGUOK, FARS2, GFM1, HADHA, MPV17, MRPS16, POLG, SCO1, SLC25A20, SUCLG1, TRMU, TSFM, TYMP
    MitocondriopatiasADN mitocondrial (mtDNA) (37 genes, MIT01)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
    MitocondriopatiasOftalmoplegia progresiva externa (PEO/CPEO) (34 genes, MIT16)ACO2, AUH, C10ORF2, C12ORF65, CISD2, DNA2, DNM1L, FH, ISCA2, KLC2, MFN2, MGME1, MTPAP, NDUFS1, NR2F1, OPA1, OPA3, POLG, POLG2, RNASEH1, RRM2B, RTN4IP1, RYR1, SLC19A3, SLC25A4, SLC25A46, SLC52A2, SPG7, TIMM8A, TK2, TMEM126A, TYMP, WFS1, YME1L1
    MitocondriopatiasSindrome Leigh (nuclear genes) (45 genes, MIT03)AARS2, ACAD9, ADCK3, BCS1L, C12ORF65, COX10, COX15, COX8A, ECHS1, FOXRED1, GFM2, GYG2, HIBCH, IARS2, LIPT1, MFF, MPV17, MTFMT, NARS2, NDUFA10, NDUFA12, NDUFA2, NDUFA9, NDUFAF2, NDUFAF5, NDUFAF6, NDUFS3, NDUFS4, NDUFS7, NDUFS8, NDUFV1, PDHA1, PDHB, PDSS2, PET100, SCO2, SDHA, SERAC1, SLC19A3, SLC25A46, SURF1, TACO1, TPK1, TSFM, TUFM
    MitocondriopatiasEncefalopatia mitocondrial / hepato(encefalo)patia mitocondrial (genes nucleares) (204 genes, MIT04)AARS2, ABHD5, ACAD8, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACO2, ADCK3, AGK, AGL, AIFM1, ALDH4A1, ALDH6A1, AMACR, AMT, ATP7B, ATPAF2, AUH, BCS1L, BOLA3, BTD, C10ORF2, C19ORF70, CA5A, CARS2, CCDC115, CDKL5, COA7, COASY, COG8, COQ2, COQ4, COQ6, COQ9, COX10, COX14, COX15, COX4I2, COX6B1, CPS1, CPT1A, CPT2, CYB5R3, CYP11B2, CYP27A1, CYP27B1, D2HGDH, DARS, DARS2, DGUOK, DLAT, DLD, DNAJC19, DPAGT1, DPYD, EARS2, ECHS1, EIF2AK3, ERCC6, ETFA, ETFB, ETFDH, ETHE1, FARS2, FASTKD2, FBP1, FBXL4, FLAD1, FOXRED1, GAMT, GATM, GBE1, GCDH, GCK, GCSH, GFAP, GFER, GFM1, GK, GLDC, GLRX5, GLUD1, HADH, HADHA, HADHB, HCCS, HLCS, HMGCS2, HSD17B10, HSPD1, IARS, IBA57, IDH2, ISCA2, ITPA, KIF5A, L2HGDH, LAMP2, LARS, LIAS, LMBRD1, LRPPRC, LYRM7, MARS2, MCCC1, MCCC2, MFF, MICU1, MLYCD, MMAA, MMAB, MMADHC, MPV17, MRPS16, MRPS22, MRPS23, MTFMT, MTO1, MTPAP, MUT, NADK2, NAGS, NBAS, NFU1, NUBPL, OAT, OFD1, OPA1, OTC, PANK2, PC, PCCA, PCCB, PCK2, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PLA2G6, PNPLA2, PNPT1, POLG, PTCD1, PUS1, PYGM, RARS2, RMND1, RRM2B, SAMHD1, SARS2, SBDS, SCO1, SCO2, SDHA, SDHAF1, SERAC1, SLC19A2, SLC19A3, SLC22A5, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A26, SLC25A3, SLC25A4, SLC33A1, SLC6A8, SPG20, SPG7, SUCLA2, SUCLG1, SURF1, TACO1, TALDO1, TANGO2, TARS2, TAZ, TFG, TIMM8A, TK2, TMEM70, TPK1, TRIT1, TRMU, TSFM, TTC19, TUFM, TYMP, UQCRB, UQCRC2, UQCRQ, VARS2, WFS1, XPNPEP3, YARS2
    MitocondriopatiasSindromes de deplecion y delecion de ADN mitocondrial (genes nucleares) (33 genes, MIT05)AARS2, AGK, C10ORF2, C12ORF65, CHCHD10, DGUOK, DNA2, FBXL4, GFER, MFN2, MGME1, MPV17, NDUFS1, OPA1, OPA3, PARS2, POLG, POLG2, RNASEH1, RRM2B, SLC24A4, SLC25A3, SLC25A4, SPG7, SUCLA2, SUCLG1, TFAM, TIMM50, TIMM8A, TK2, TMEM126A, TYMP, WFS1
    MitocondriopatiasDesordenes de metabolismo del piruvato (genes nucleares) (9 genes, MIT06)ATP5E, DLAT, DLD, MPC1, PDHA1, PDHB, PDHX, PDP1, TMEM70
    MitocondriopatiasDeficiencia de fosforilacion oxidativa combinada (COXPD) (32 genes, MIT07)AARS2, AIFM1, ATP5A1, C12ORF65, CARS2, EARS2, ELAC2, FARS2, GFM1, GTPBP3, LYRM4, MARS2, MIPEP, MRPL3, MRPL44, MRPS16, MRPS22, MTFMT, MTO1, NARS2, NSUN3, PNPT1, RMND1, SFXN4, SLC25A26, TARS2, TRMT10C, TRMT5, TSFM, TUFM, TXN2, YARS2
    MitocondriopatiasDeficiencia del complejo I (60 genes, MIT08)AARS2, ACAD9, AIFM1, C10ORF2, ECI1, ECSIT, FOXRED1, GAD1, GPAM, HOGA1, IVD, LRPPRC, MGST3, MRRF, MTFMT, NARS2, NDUFA1, NDUFA10, NDUFA11, NDUFA13, NDUFA2, NDUFA4, NDUFA6, NDUFA8, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF7, NDUFB1, NDUFB10, NDUFB11, NDUFB3, NDUFB8, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS5, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NDUFV3, NFS1, NIPSNAP1, NIPSNAP3A, NPL, NUBPL, PHYH, PTCD1, SLC35G2, STXBP1, SUGCT, TMEM126B
    MitocondriopatiasDeficiencia del complejo II (6 genes, MIT09)FOXRED1, ISCU, NFS1, SDHA, SDHAF1, SDHD
    MitocondriopatiasDeficiencia del complejo III (12 genes, MIT10)BCS1L, CYC1, LYRM7, MT-CYB, NDUFS4, NFS1, TTC19, UQCC2, UQCC3, UQCRB, UQCRC2, UQCRQ
    MitocondriopatiasDeficiencia del complejo IV (26 genes, MIT11)AARS2, APOPT1, CEP89, COA3, COA5, COA6, COX10, COX14, COX15, COX20, COX4I1, COX4I2, COX6B1, ETHE1, FASTKD2, LRPPRC, MT-CO1, MT-CO2, MT-C03, MT-TL1, MT-TS1, PET100, SCO1, SCO2, SURF1, TACO1
    MitocondriopatiasDeficiencia del complejo V (6 genes, MIT12)ATP5A1, ATP5E, ATPAF2, MT-ATP6, MT-ATP8, TMEM70
    MitocondriopatiasDeficiencia de CoQ10 y deficiencia de acil-CoA-deshidrogenasa (14 genes, MIT13)ADCK3, ADCK4, ANO10, APTX, COQ2, COQ4, COQ6, COQ7, COQ9, ETFA, ETFB, ETFDH, PDSS1, PDSS2
    MitocondriopatiasAciduria metilglutaconica (MGA) (18 genes, MIT14)AGK, ATP5E, ATPAF2, AUH, C19ORF70, CLPB, DNAJC19, HMGCL, HTRA2, MT-TL1, OPA3, POLG, SDHA, SERAC1, SUCLA2, TAZ, TIMM50, TMEM70
    MitocondriopatiasSindrome MELAS y MERRF (26 genes, MIT15)MT-CO1, MT-CO2, MT-CYB, MT-ND1, MT-ND3, MT-ND4, MT-ND5, MT-ND6, MT-NDUL, MT-TC, MT-TD, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, POLG
    MitocondriopatiasMitocondriopatias por genes codificados nuclearmente (359 genes, MIT02)AARS2, ABCB7, ABHD5, ACAD8, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACO2, ADCK3, ADCK4, AFG3L2, AGK, AGL, AIFM1, ALDH4A1, ALDH6A1, AMACR, AMPD1, AMT, ANO10, APOPT1, APTX, ATAD3A, ATP5A1, ATP5E, ATP7B, ATPAF2, AUH, BCAT2, BCKDHA, BCKDHB, BCS1L, BOLA3, BTD, C10ORF2, C12ORF65, C19ORF70, CA5A, CARS2, CCDC115, CDKL5, CEP89, CHCHD10, CISD2, CLPB, CLPP, COA3, COA5, COA6, COA7, COASY, COG8, COQ2, COQ4, COQ6, COQ7, COQ9, COX10, COX14, COX15, COX20, COX4I1, COX4I2, COX6B1, COX7B, COX8A, CPS1, CPT1A, CPT2, CYB5R3, CYC1, CYP11B2, CYP24A1, CYP27A1, CYP27B1, D2HGDH, DARS, DARS2, DBT, DDHD1, DGUOK, DHTKD1, DLAT, DLD, DMGDH, DNA2, DNAJC19, DNM1L, DPAGT1, DPYD, EARS2, ECHS1, ECI1, ECSIT, EIF2AK3, ELAC2, ERCC6, ETFA, ETFB, ETFDH, ETHE1, FARS2, FASTKD2, FBP1, FBXL4, FDX1L, FH, FLAD1, FOXRED1, GAD1, GAMT, GARS, GATM, GBE1, GCDH, GCK, GCSH, GDAP1, GFAP, GFER, GFM1, GFM2, GK, GLDC, GLRX5, GLUD1, GNPAT, GPAM, GTPBP3, GYG2, HADH, HADHA, HADHB, HARS2, HCCS, HIBCH, HLCS, HMGCL, HMGCS2, HOGA1, HSD17B10, HSPD1, HTRA2, IARS, IARS2, IBA57, IDH2, ISCA2, ISCU, ITPA, IVD, KIF5A, KLC2, L2HGDH, LAMP2, LARS, LARS2, LIAS, LIPT1, LMBRD1, LRPPRC, LYRM4, LYRM7, MAOA, MARS2, MCCC1, MCCC2, MCEE, MFF, MFN2, MGME1, MGST3, MICU1, MIPEP, MLYCD, MMAA, MMAB, MMADHC, MPC1, MPV17, MRPL12, MRPL3, MRPL44, MRPS16, MRPS22, MRPS23, MRRF, MTFMT, MTO1, MTPAP, MUT, NADK2, NAGS, NARS2, NBAS, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA13, NDUFA2, NDUFA4, NDUFA6, NDUFA8, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF7, NDUFB1, NDUFB10, NDUFB11, NDUFB3, NDUFB8, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS5, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NDUFV3, NFS1, NFU1, NIPSNAP1, NIPSNAP3A, NPL, NR2F1, NSUN3, NUBPL, NUP62, OAT, OFD1, OGDH, OPA1, OPA3, OTC, OXCT1, PANK2, PARP10, PARS2, PC, PCCA, PCCB, PCK2, PDHA1, PDHB, PDHX, PDK3, PDP1, PDSS1, PDSS2, PET100, PHYH, PIGQ, PLA2G6, PNPLA2, PNPLA4, PNPT1, POLG, POLG2, PPA2, PPOX, PTCD1, PUS1, PYCR1, PYGM, QRSL1, RANBP2, RARS2, REEP1, RMND1, RNASEH1, RRM2B, RTN4IP1, RYR1, SAMHD1, SARS2, SBDS, SCO1, SCO2, SDHA, SDHAF1, SDHD, SERAC1, SFXN4, SLC19A2, SLC19A3, SLC22A5, SLC24A4, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A26, SLC25A3, SLC25A4, SLC25A46, SLC33A1, SLC35G2, SLC39A8, SLC52A2, SLC6A8, SPAST, SPG20, SPG7, STXBP1, SUCLA2, SUCLG1, SUGCT, SURF1, TACO1, TALDO1, TANGO2, TARS2, TAZ, TFAM, TFG, TIMM50, TIMM8A, TK2, TMEM126A, TMEM126B, TMEM70, TPK1, TRIT1, TRMT10C, TRMT5, TRMU, TSFM, TTC19, TUFM, TXN2, TYMP, UGT1A1, UQCC2, UQCC3, UQCRB, UQCRC2, UQCRQ, VARS2, WFS1, WWOX, XPNPEP3, YARS2, YME1L1
    Enfermedades neurodegenerativasEnfermedad de Parkinson, autosomica dominante (5 Genes, NDD01)CHCHD2, GBA, LRRK2, SNCA, VPS35
    Enfermedades neurodegenerativasEnfermedad de Parkinson, autosomica recesiva (10 Genes, NDD02)ATP13A2, DNAJC6, FBXO7, PARK2 (PRKN), PARK7, PINK1, PLA2G6, SLC30A10, SYNJ1, VPS13C
    Enfermedades neurodegenerativasEnfermedad de Parkinson atipica (15 Genes, NDD03)ATP13A2, ATP1A3, DCTN1, DNAJC6, FBXO7, FTL, GCH1, GRN, MAPT, PLA2G6, RAB39B, SLC30A10, SPG11, SYNJ1, TH
    Enfermedades neurodegenerativasDistonia-Parkinsonismo (11 Genes, NDD04)ATP1A3, DNAJC12, GCH1, PLA2G6, PRKRA, SLC30A10, SLC39A14, SLC6A3, SPR, TAF1, TH
    Enfermedades neurodegenerativasEnfermedad de Parkinson (31 Genes, NDD05)ATP13A2, ATP1A3, C19ORF12, CHCHD2, DCTN1, DNAJC6, FBXO7, FTL, GBA, GCH1, GRN, LRRK2, MAPT, PANK2, PARK2 (PRKN), PARK7, PINK1, PLA2G6, PRKRA, RAB39B, SLC30A10, SLC39A14, SLC6A3, SNCA, SPG11, SPR, SYNJ1, TAF1, TH, VPS13C, VPS35
    Enfermedades neurodegenerativasDistonia de torsion primaria (8 Genes, NDD06)ANO3, CIZ1, COL6A3, GNAL, HPCA, THAP1, TOR1A, TUBB4A
    Enfermedades neurodegenerativasSindrome distonia Plus (13 Genes, NDD07)ATP1A3, BCAP31, COX20, FTL, GCH1, KIF1C, PRKRA, SGCE, SLC30A10, SPR, TAF1, TH, TUBB4A
    Enfermedades neurodegenerativasDiscinesia paroxistica (11 Genes, NDD08)ADCY5, ATP1A3, CACNA1A, GCH1, KCNA1, KCNMA1, PARK2 (PRKN), PNKD, PRRT2, SCN8A, SLC2A1
    Enfermedades neurodegenerativasSindromes hereditarios degenerativas (37 Genes, NDD09)ARSA, ATM, ATP13A2, ATP7B, AUH, C19ORF12, CLN3, CSF1R, CYP27A1, DCTN1, FBXO7, FTL, FUCA1, GCDH, HEPACAM, HEXA, HPRT1, HTT, MECP2, MLC1, NPC1, NPC2, NUP62, OPA3, PANK2, PARK2 (PRKN), PLA2G6, PLP1, SLC16A2, SLC19A3, SLC25A15, SLC30A10, SLC6A3, SMPD1, TAF1, VPS13A, WDR45
    Enfermedades neurodegenerativasDistonia (40 Genes, NDD10)ADAR, ADCY5, ANO3, ATM, ATP1A3, ATP7B, BCAP31, CACNA1B, CIZ1, COL6A3, DDC, DNAJC12, FA2H, FTL, GCDH, GCH1, GNAL, HPCA, KCNMA1, KMT2B, MECR, PANK2, PLA2G6, PNKD, PRKRA, PRRT2, SCN8A, SGCE, SLC19A3, SLC2A1, SLC30A10, SLC39A14, SLC6A3, SPR, TH, THAP1, TOR1A, TUBB4A, VAC14, VPS13A
    Enfermedades neurodegenerativasNeurodegeneracion por acumulacion de hierro (NBIA) (10 Genes, NDD11)ATP13A2, C19ORF12, COASY, CP, DCAF17, FA2H, FTL, PANK2, PLA2G6, WDR45
    Enfermedades neurodegenerativasNeuroacantocitosis (3 Genes, NDD12)PANK2, VPS13A, XK, JPH3 análisis de repeticiones
    Enfermedades neurodegenerativasDesordenes del movimiento coreatetosico, analisis paso a paso: (7 Genes, NDD13)ADCY5, ATM, FRRS1L, GNAO1, NKX2-1, PDE10A, PRNP, HTT
    Enfermedades neurodegenerativasDesordenes del movimiento coreatetosico, analisis paso a paso: (7 Genes, NDD13)Paso 1: HTT, JPH3 análisis de repeticiones
    Enfermedades neurodegenerativasDesordenes del movimiento coreatetosico, analisis paso a paso: (7 Genes, NDD13)Paso 2: Desórdenes del movimiento coreatetósico, (panel por NGS)
    Enfermedades neurodegenerativasAtaxia, autosomica dominante, analisis paso a paso: (25 Genes, NDD25)AFG3L2, ATP1A3, CACNA1A, CACNA1G, CACNB4, CAMTA1, CCDC88C, EEF2, ELOVL4, ELOVL5, FGF14, ITPR1, KCNA1, KCNC3, KCND3, PDYN, PRKCG, SAMD9L, SLC1A3, SPG7, SPTBN2, TGM6, TMEM240, TTBK2, VAMP1
    Enfermedades neurodegenerativasAtaxia, autosomica dominante, analisis paso a paso: (25 Genes, NDD25)Paso 1: SCA1, SCA2, SCA3, SCA6, SCA7, SCA17 analisis de repeticiones opcional
    Enfermedades neurodegenerativasAtaxia, autosomica dominante, analisis paso a paso: (25 Genes, NDD25)Paso 2: Ataxia, autosómica dominante (panel NGS)
    Enfermedades neurodegenerativasAtaxia, autosomica recesiva y ligada al X, analisis paso a paso: (43 Genes, NDD26)ADCK3 (COQ8A), AFG3L2, ANO10, APTX, ATCAY, ATM, ATP2B3, ATP8A2, CA8, CP, CWF19L1, FXN, GOSR2, GRID2, GRM1, HEXA, HEXB, KIAA0226 (RUBCN), KIF1C, MARS2, MRE11A (MRE11), NKX6-2, PLA2G6, PMPCA, PNKP, POLG, PRICKLE1, RNF216, SACS, SCYL1, SETX, SNX14, SPG7, SPTBN2, STUB1, SYNE1, SYT14, TDP1, TPP1, TTPA, VLDLR, WDR81, WWOX
    Enfermedades neurodegenerativasAtaxia, autosomica recesiva y ligada al X, analisis paso a paso: (43 Genes, NDD26)Paso 1: Análisis de repeticiones en gen FXN
    Enfermedades neurodegenerativasAtaxia, autosomica recesiva y ligada al X, analisis paso a paso: (43 Genes, NDD26)Paso 2: Ataxia, autosómica recesiva y ligada al X (panel NGS)
    Enfermedades neurodegenerativasAtaxia episodica (4 Genes, NDD30)CACNA1A, CACNB4, KCNA1, SLC1A3
    Enfermedades neurodegenerativasAtaxia y diagnosticos diferenciales, analisis paso a paso: (101 Genes, NDD14)ABCB7, ABHD12, ADCK3 (COQ8A), AFG3L2, ANO10, APTX, ARSA, ATCAY, ATM, ATP1A3, ATP2B3, ATP8A2, C10ORF2 (TWNK), CA8, CACNA1A, CACNA1G, CACNB4, CAMTA1, CAPN1, CCDC88C, CLCN2, CP, CWF19L1, CYP27A1, DARS2, DNAJC5, DNMT1, EEF2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL4, ELOVL5, FGF14, FLVCR1, FOLR1, FXN, GBA2, GFAP, GOSR2, GRID2, GRM1, HEXA, HEXB, ITPR1, KCNA1, KCNC3, KCND3, KCNJ10, KIAA0226 (RUBCN), KIF1C, MARS2, MRE11A (MRE11), MTTP, NKX2‑1, NKX6‑2, NPC1, NPC2, PAX6, PDYN, PEX7, PHYH, PLA2G6, PMPCA, PNKP, PNPLA6, POLG, POLR3A, PRICKLE1, PRKCG, PRRT2, RNF170, RNF216, SACS, SAMD9L, SCYL1, SETX, SIL1, SLC1A3, SLC2A1, SNX14, SPG7, SPTBN2, STUB1, SYNE1, SYT14, TDP1, TGM6, TMEM240, TPP1, TTBK2, TTC19, TTPA, VAMP1, VLDLR, VRK1, WDR81, WFS1, WWOX
    Enfermedades neurodegenerativasAtaxia y diagnosticos diferenciales, analisis paso a paso: (101 Genes, NDD14)Paso 1A: repeticiones SCA1, SCA2, SCA3, SCA6, SCA7, SCA17
    Enfermedades neurodegenerativasAtaxia y diagnosticos diferenciales, analisis paso a paso: (101 Genes, NDD14)Paso 1B: Análisis de repeticiones en FXN
    Enfermedades neurodegenerativasAtaxia y diagnosticos diferenciales, analisis paso a paso: (101 Genes, NDD14)Step 2: Ataxia y diagnósticos diferenciales (panel NGS)
    Enfermedades neurodegenerativasDemencia Frontotemporal (FTD), analisis paso a paso: (17 Genes, NDD15)CHCHD10, CHMP2B, CSF1R, FUS, GRN, ITM2B, MAPT, NOTCH3, PRNP, PSEN1, PSEN2, SQSTM1, TARDBP, TBK1, TREM2, UBQLN2, VCP
    Enfermedades neurodegenerativasDemencia Frontotemporal (FTD), analisis paso a paso: (17 Genes, NDD15)Paso 1: análisis de repeticiones en C9ORF72
    Enfermedades neurodegenerativasDemencia Frontotemporal (FTD), analisis paso a paso: (17 Genes, NDD15)Paso 2: Demencia Frontotemporal (FTD) (panel NGS)
    Enfermedades neurodegenerativasEnfermedad de Alzheimer (analisis completo), incluyendo: (4 Genes, NDD16)APOE, APP, PSEN1, PSEN2
    Enfermedades neurodegenerativasEnfermedad de Alzheimer (analisis completo), incluyendo: (4 Genes, NDD16)Paso 1: análisis de repeticiones en C9ORF72
    Enfermedades neurodegenerativasEnfermedad de Alzheimer (analisis completo), incluyendo: (4 Genes, NDD16)PAso 2: Enfermedad de Alzheimer (panel NGS)
    Enfermedades neurodegenerativasDemencia analisis paso a paso: (18 Genes, NDD17)APOE, APP, CHCHD10, CHMP2B, CSF1R, GRN, ITM2B, MAPT, NOTCH3, PRNP, PSEN1, PSEN2, SQSTM1, TARDBP, TBK1, TREM2, UBQLN2, VCP
    Enfermedades neurodegenerativasDemencia analisis paso a paso: (18 Genes, NDD17)Paso 1: análisis de repeticiones en C9ORF72
    Enfermedades neurodegenerativasDemencia analisis paso a paso: (18 Genes, NDD17)Paso 2: Demencia (panel NGS)
    Enfermedades neurodegenerativasEsclerosis lateral amiotrofica (ELA), analisis paso a paso: (22 Genes, NDD18)ALS2, ANG, CHCHD10, CHMP2B, DCTN1, FIG4, FUS, HNRNPA1, MATR3, OPTN, PFN1, SETX, SIGMAR1, SOD1, SPG11, SQSTM1, TARDBP, TBK1, TUBA4A, UBQLN2, VAPB, VCP
    Enfermedades neurodegenerativasEsclerosis lateral amiotrofica (ELA), analisis paso a paso: (22 Genes, NDD18)Paso 1: análisis de repeticiones en C9ORF72
    Enfermedades neurodegenerativasEsclerosis lateral amiotrofica (ELA), analisis paso a paso: (22 Genes, NDD18)Paso 2: Esclerosis lateral amiotrófica (ELA) (panel NGS)
    Enfermedades neurodegenerativasParaplegia espastica hereditaria (HSP), autosomica dominante (12 Genes, NDD27)ALDH18A1, ATL1, BSCL2, HSPD1, KIAA0196 (WASHC5), KIDINS220, KIF5A, NIPA1, REEP1, REEP2, RTN2, SPAST
    Enfermedades neurodegenerativasParaplegia espastica hereditaria (HSP), autosomica recesiva y ligadal al X (31 Genes, NDD28)ALDH18A1, ALS2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, B4GALNT1, C12ORF65, CAPN1, CYP2U1, CYP7B1, DDHD1, DDHD2, ERLIN2, FA2H, GBA2, KIF1A, L1CAM, MAG, NT5C2, PLP1, PNPLA6, REEP2, SPG11, SPG20 (SPART), SPG21, SPG7, TECPR2, TFG, ZFYVE26
    Enfermedades neurodegenerativasParaplegia espastica hereditaria (HSP), todas (51 Genes, NDD20)AFG3L2, AIMP1, ALDH18A1, ALS2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ATL1, B4GALNT1, BSCL2, C12ORF65, CAPN1, CYP2U1, CYP7B1, DDHD1, DDHD2, DSTYK, ERLIN2, FA2H, GALC, GBA2, HSPD1, KIAA0196 (WASHC5), KIDINS220, KIF1A, KIF1C, KIF5A, L1CAM, MAG, NIPA1, NKX6-2, NT5C2, PLA2G6, PLP1, PNPLA6, REEP1, REEP2, RTN2, SACS, SLC16A2, SPAST, SPG11, SPG20 (SPART), SPG21, SPG7, TECPR2, TFG, TUBB4A, ZFYVE26
    Enfermedades neurodegenerativasLipofuscinosis neuronal ceroide (NCL) (13 Genes, NDD21)ATP13A2, CLN3, CLN5, CLN6, CLN8, CTSD, CTSF, DNAJC5, GRN, KCTD7, MFSD8, PPT1, TPP1
    Enfermedades neurodegenerativasLeucodistrofia y leucoencefalopatia (78 Genes, NDD29)AARS, AARS2, ABCD1, ACOX1, ADAR, AIMP1, ALDH3A2, APOA1BP (NAXE), ARSA, ASPA, BCAP31, C11ORF73 (HIKESHI), CLCN2, CSF1R, CTC1, CTSA, CYP27A1, DARS, DARS2, EARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, FAM126A, FUCA1, GALC, GBE1, GCDH, GFAP, GJC2, HEPACAM, HSD17B4, HSPD1, HTRA1, IFIH1, L2HGDH, LMNB1, MLC1, NOTCH3, OBFC1 (STN1), PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PLEKHG2, PLP1, POLR1C, POLR3A, POLR3B, PSAP, PYCR2, RARS, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, SAMHD1, SCP2, SLC16A2, SLC17A5, SNORD118, SOX10, SUMF1, TREX1, TUBB4A, VPS11
    Enfermedades neurodegenerativasLeucodistrofia/Leucoencefalopatia y diagnosticos diferenciales (133 Genes, NDD22)AARS, AARS2, ABCD1, ACOX1, ADAR, AIMP1, ALDH3A2, APOA1BP (NAXE), APOPT1, ARSA, ASPA, BCAP31, BOLA3, C11ORF73 (HIKESHI), CLCN2, COL4A1, COL4A2, CSF1R, CTC1, CTSA, CYP27A1, DARS, DARS2, EARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ERCC6, ERCC8, FA2H, FAM126A, FKRP, FKTN, FOLR1, FUCA1, GALC, GAN, GBE1, GCDH, GFAP, GJC2, GLA, GLB1, GLRX5, GMPPB, HEPACAM, HEXA, HSD17B4, HSPD1, HTRA1, IBA57, IDS, IFIH1, ISCA2, KCNT1, KIF5A, L2HGDH, LAMA2, LARGE (LARGE1), LMNB1, LYRM7, MCOLN1, MLC1, MTFMT, NDUFS1, NDUFV1, NEU1, NFU1, NKX6‑2, NOTCH3, NPC1, NPC2, OBFC1 (STN1), OCLN, PC, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHGDH, PLA2G6, PLAA, PLEKHG2, PLP1, POLG, POLR1C, POLR3A, POLR3B, POMGNT1, POMT1, POMT2, PPT1, PSAP, PSAT1, PYCR2, RARS, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, SAMHD1, SCP2, SDHA, SDHAF1, SLC16A2, SLC17A5, SLC1A4, SLC25A12, SNORD118, SOX10, SPTAN1, SUMF1, SURF1, TPP1, TREM2, TREX1, TUBB4A, TUFM, TYMP, TYROBP, VPS11
    Enfermedades neurodegenerativasEnfermedad cerebral de vasos pequeños (10 Genes, NDD23)APP, COL4A1, COL4A2, CTSA, FOXC1, GLA, HTRA1, NOTCH3, SNORD118, TREX1
    Enfermedades neurodegenerativasCalcificacion de ganglios basales (20 Genes, NDD24)ADAR, CA2, COL4A1, CTC1, ERCC6, ERCC8, GALC, IFIH1, OCLN, PDGFB, PDGFRB, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SLC20A2, TREM2, TREX1, TYROBP, XPR1
    Enfermedades NeuromuscularesAtrofia Muscular Espinal (AME), analisis paso por paso: (31 genes, NMD01)AARS, ASAH1, ASCC1, ATP7A, BICD2, BSCL2, CHCHD10, DCTN1, DNAJB2, DYNC1H1, EXOSC3, EXOSC8, FBXO38, GARS, HEXA, HSPB1, HSPB3, HSPB8, IGHMBP2, LAS1L, PLEKHG5, RBM7, REEP1, SCO2, SETX, SIGMAR1, SLC5A7, TRPV4, UBA1, VAPB, VRK1
    Enfermedades NeuromuscularesAtrofia Muscular Espinal (AME), analisis paso por paso: (31 genes, NMD01)Repeticiones en AR, opcional
    Enfermedades NeuromuscularesAtrofia Muscular Espinal (AME), analisis paso por paso: (31 genes, NMD01)Paso 1: análisis de deleciones/duplicaciones en SMN1 (MLPA)
    Enfermedades NeuromuscularesAtrofia Muscular Espinal (AME), analisis paso por paso: (31 genes, NMD01)Paso 2: Atrofia Muscular Espinal (AME) (panel NGS)
    Enfermedades NeuromuscularesNeuropatias hereditarias, analisis paso a paso: (101 genes, NMD02)AARS, ABHD12, AIFM1, ARHGEF10, ATL1, ATL3, BSCL2, C10ORF2, C12ORF65, CCT5, COX6A1, CTDP1, DCAF8, DCTN2, DGAT2, DHTKD1, DNAJB2, DNAJB5, DNM2, DNMT1, DRP2, DST, DYNC1H1, EGR2, FAM134B, FBLN5, FGD4, FIG4, GAN, GARS, GDAP1, GJB1, GJB3, GNB4, HADHA, HADHB, HARS, HINT1, HK1, HOXD10, HSPB1, HSPB8, IGHMBP2, IKBKAP, INF2, KARS, KIF1A, KIF1B, KIF5A, LITAF, LMNA, LRSAM1, MARS, MED25, MFN2, MME, MORC2, MPV17, MPZ, MTMR2, MYH14, NAGLU, NDRG1, NEFH, NEFL, NGF, NTRK1, OPA1, PDK3, PLEKHG5, PMP2, PMP22, POLG, PRDM12, PRPS1, PRX, RAB7A, REEP1, SBF1, SBF2, SCN10A, SCN11A, SCN9A, SEPT9, SH3TC2, SLC12A6, SOX10, SPG11, SPTLC1, SPTLC2, SURF1, TECPR2, TFG, TRIM2, TRPV4, TTR, TYMP, VCP, WNK1, YARS, ZNF106
    Enfermedades NeuromuscularesNeuropatias hereditarias, analisis paso a paso: (101 genes, NMD02)Paso 1: análisis de deleciones/duplicaciones en PMP22 (MLPA)
    Enfermedades NeuromuscularesNeuropatias hereditarias, analisis paso a paso: (101 genes, NMD02)Paso 2: Neuropatías hereditarias (panel NGS)
    Enfermedades NeuromuscularesMiopatias congenitas y distales (82 genes, NMD03)ACTA1, ACVR1, ADSSL1, ANO5, BAG3, BIN1, C10ORF2, CACNA1S, CASQ1, CAV3, CCDC78, CFL2, CHCHD10, CNTN1, COL12A1, COL6A1, COL6A2, COL6A3, CRYAB, DES, DNA2, DNAJB5, DNM2, DYSF, FHL1, FHL2, FKBP14, FLNC, GNE, HACD1 (PTPLA), HNRNPA1, HNRNPA2B1, ISCU, KBTBD13, KLHL40, KLHL41, KLHL9, KY, LAMP2, LDB3, LMOD3, MATR3, MEGF10, MICU1, MSTN, MTM1, MTMR14, MYF6, MYH14, MYH2, MYH7, MYOT, NEB, OPA1, ORAI1, PABPN1, PLEC, POLG, POLG2, PUS1, PYROXD1, RRM2B, RYR1, SEPN1, SIL1, SPEG, STAC3, STIM1, SUCLA2, TIA1, TK2, TNNT1, TPM2, TPM3, TRIM32, TRIM54, TRIM63, TTN, VCP, VMA21, YARS2, ZAK
    Enfermedades NeuromuscularesDistrofias musculares de cinturas (o cintura-miembro) (39 genes, NMD04)ANO5, BVES, CAPN3, CAV3, DAG1, DES, DMD, DNAJB6, DPM3, DYSF, FKRP, FKTN, FLNC, GAA, GMPPB, GNE, HNRNPDL, ISPD, LAMA2, LIMS2, LMNA, MYOT, PLEC, POGLUT1, POMGNT1, POMGNT2, POMK, POMT1, POMT2, SGCA, SGCB, SGCD, SGCG, TCAP, TNPO3, TOR1AIP1, TRAPPC11, TRIM32, TTN
    Enfermedades NeuromuscularesDistrofias musculares, analisis paso a paso: (42 genes, NMD05)ANO5, B3GALNT2, B4GAT1 (B3GNT1), CHKB, COL12A1, COL6A1, COL6A2, COL6A3, DAG1, DMD, DPM1, DPM2, DPM3, DYSF, EMD, FHL1, FKRP, FKTN, GMPPB, GOLGA2, ISPD, ITGA7, LAMA2, LARGE, LMNA, PABPN1, POMGNT1, POMGNT2, POMT1, POMT2, PTRF, SEPN1, SMCHD1, SYNE1, SYNE2, TCAP, TMEM43, TMEM5, TOR1AIP1, TRAPPC11, TRIP4, TTN
    Enfermedades NeuromuscularesDistrofias musculares, analisis paso a paso: (42 genes, NMD05)Step1: DMD deletion/duplication analysis (MLPA)
    Enfermedades NeuromuscularesDistrofias musculares, analisis paso a paso: (42 genes, NMD05)Step2: Muscular dystrophies (NGS panel)
    Enfermedades NeuromuscularesSindromes miastenicos congenitos y artrogriposis (58 genes, NMD06)ACTA1, ADCY6, AGRN, ALG14, ALG2, ALG3, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CHST14, CNTNAP1, COL13A1, COLQ, DNM2, DOK7, DPAGT1, ECEL1, ERBB3, FBN2, FBN3, FKBP10, GFPT1, GLDN, GLE1, GMPPB, GPR126, LAMB2, LRP4, MUSK, MYBPC1, MYH3, MYH8, MYO9A, NALCN, NEK9, PIEZO2, PIP5K1C, PLEC, PLOD2, PREPL, RAPSN, SCN4A, SEMA3A, SLC18A3, SLC25A1, SLC5A7, SNAP25, SYNE1, SYT2, TNNI2, TNNT3, TPM2, VIPAS39, VPS33B, ZC4H2
    Enfermedades NeuromuscularesMiotonia (5 genes, NMD07)ATP2A1, CAV3, CLCN1, HINT1, SCN4A
    Enfermedades NeuromuscularesMiopatias metabolicas (44 genes, NMD08)ABHD5, ACAD9, ACADL, ACADM, ACADS, ACADVL, AGL, AMPD1, CPT2, ENO3, ETFA, ETFB, ETFDH, G6PC, GAA, GBE1, GYG1, GYS1, HADH, HADHA, HADHB, ISCU, LDHA, LPIN1, PDHA1, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKB, PHKG2, PNPLA2, POLG2, PRKAG2, PUS1, PYGM, RBCK1, RRM2B, SLC16A1, SLC22A5, SLC25A20, TAZ, YARS2
    Enfermedades NeuromuscularesSindrome Walker-Warburg (15 genes, NMD10)B3GALNT2, B4GAT1 (B3GNT1), COL4A1, DAG1, FKRP, FKTN, GMPPB, ISPD, LARGE, POMGNT1, POMGNT2, POMK, POMT1, POMT2, TMEM5
    Enfermedades NeuromuscularesParalisis periodicas (5 genes, NMD12)CACNA1S, SCN4A, KCNJ2, KCNJ5, KCNE3
    RASopatiasDesordenes de la via kinasa RAS/MAP (23 genes, RAS01)A2ML1, AKT3, BRAF, CBL, CCND2, HRAS, KRAS, MAP2K1, MAP2K2, NF1, NRAS, PIK3CA, PIK3R2, PTPN11, RAF1, RASA1, RASA2, RIT1, RRAS, SHOC2, SOS1, SPRED1, STAMBP
    Desordenes esqueleticosDisplasia metafisiaria (8 genes, SKT01)COL10A1, FGFR3, MMP13, MMP9, PTH1R, RMRP, RUNX2, SBDS
    Desordenes esqueleticosDisplasia epifisiaria multiple y pseudoacondroplasia (8 genes, SKT02)COL2A1, COL9A1, COL9A2, COL9A3, COMP, MATN3, SLC26A2, PTH1R
    Desordenes esqueleticosDisplasia espondilometafisiaria y displasia espondilo-epi-(meta)-fisiaria (27 genes, SKT03)ACP5, B3GALT6, CANT1, CHST3, COL11A1, COL11A2, COL2A1, DDR2, DYM, EIF2AK3, HSPG2, IMPAD1, KIF22, MATN3, MMP13, NKX3-2, PAPSS2, PCYT1A, POP1, RAB33B, RMRP, SLC39A13, SMARCAL1, TRAPPC2, TRPV4, WISP3, XYLT1
    Desordenes esqueleticosDisplasia Micromelica, acromelica, acromesomelica, mesomelica, y rizo-mesomelica (19 genes, SKT04)ADAMTSL2, DDR2, FBN1, FGFR3, GDF5, GPC6, GSC, IFT122, IFT140, IFT43, IHH, NPR2, PDE4D, PRKAR1A, ROR2, TRPS1, WDR35, WNT5A, ZSWIM6
    Desordenes esqueleticosDisplasia de costillas cortas (13 genes, SKT05)DYNC2H1, EVC, EVC2, IFT122, IFT140, IFT172, IFT80, NEK1, TTC21B, WDR19, WDR34, WDR35, WDR60
    Desordenes esqueleticosCondrodisplasia punctata (7 genes, SKT06)AGPS, ARSE, EBP, GNPAT, LBR, NSDHL, PEX7
    Desordenes esqueleticosOsteogenesis imperfecta y displasias esqueleticas relacionadas con densidad mineral osea disminuida (22 genes, SKT07)ANO5, ATP6V0A2, B4GALT7, BMP1, COL1A1, COL1A2, CRTAP, FKBP10, GORAB, IFITM5, LRP5, P3H1, PLOD2, PLS3, PPIB, PYCR1, SERPINF1, SERPINH1, SP7, TMEM38B, TNFRSF11B, WNT1
    Desordenes esqueleticosOsteopetrosis y displasias esqueleticas relacionadas con densidad mineral osea incrementada (28 genes, SKT08)AMER1, ANKH, CA2, CLCN7, COL1A1, CTSK, DHCR24, DLX3, FAM20C, GJA1, HPGD, LEMD3, LRP4, LRP5, MTAP, OSTM1, PLEKHM1, PTDSS1, PTH1R, SLCO2A1, SNX10, SOST, TBXAS1, TCIRG1, TGFB1, TNFRSF11A, TNFRSF11B, TNFSF11
    Desordenes esqueleticosRaquitismo hipofosfatemico y displasias esqueleticas relacionadas con mineralizacion anormal (16 genes, SKT09)ALPL, ANKH, AP2S1, CASR, CLCN5, CYP27B1, CYP2R1, DMP1, ENPP1, FGF23, GNA11, PHEX, SLC34A1, SLC34A3, SLC9A3R1, VDR
    Desordenes esqueleticosMalformaciones en extremidades: braquidactilia aislada, sinostosis, pie/mano hendidos, polidactilia, sindactilia, y sindromes geneticos seleccionados con malfromaciones en extremidades (20 genes, SKT10)BHLHA9, BMP2, BMPR1B, FBLN1, FGF16, GDF5, GJA1, GLI3, HOXA11, HOXD13, IHH, LMBR1, LRP4, NOG, PTHLH, ROR2, TP63, TRPV4, WNT10B, WNT7A
    Desordenes esqueleticosCraneosinostosis (20 genes, SKT11)ALX4, EFNB1, ERF, FGFR1, FGFR2, FGFR3, FREM1, IFT122, IFT43, IL11RA, MEGF8, MSX2, POR, RAB23, RECQL4, SKI, TCF12, TWIST1, WDR19, WDR35
    Desordenes esqueleticosDesordenes esqueleticos potencialemente letales (44 genes, SKT12)AGPS, ALPL, ARSE, BMPER, CANT1, COL11A1, COL11A2, COL1A1, COL1A2, COL2A1, CRTAP, DHCR7, DLL3, DYNC2H1, EBP, FAM111A, FAM20C, FGFR2, FGFR3, FLNA, FLNB, GDF5, GLI3, GNPAT, IFT80, INPPL1, LBR, LIFR, NEK1, NSDHL, OFD1, P3H1, PEX7, PPIB, PTH1R, RNU4ATAC, SLC26A2, SLC35D1, SOX9, TCTN3, TRIP11, TRPV4, WDR34, WNT7A
    Desordenes esqueleticosSindrome Seckel, Sindrome 3-M, Sindrome Rubinstein-Taybi, Sindrome Kabuki y otros sindromes geneticos seleccionados con compromiso esqueletico (42 genes, SKT13)ATR, CCDC8, CDC6, CDKN1C, CDT1, CENPJ, CEP152, CEP63, CREBBP, CUL7, DNA2, EP300, ESCO2, FAM111A, FAM58A, FGF10, FGF9, FGFR2, FGFR3, GDF3, GDF6, LARP7, LMX1B, MEOX1, MGP, NIN, OBSL1, ORC1, ORC4, ORC6, PCNT, POC1A, RBBP8, RECQL4, SALL1, SALL4, SF3B4, SH3PXD2B, TBCE, TBX15, TBX3, TBX5
    Paneles enfocadosAfibrinogenemia / disfibrinogenemia (3 genes, SSP01)FGA, FGB, FGG
    Paneles enfocadosInmunodeficiencia comun variable (CVID) (13 genes, SSP02)CD19, CD81, CR2, CXCR4, ICOS, LRBA, MS4A1, NFKB1, NFKB2, PRKCD, TNFRSF13B, TNFRSF13C, TNFSF12
    Paneles enfocadosEsclerosis Tuberosa (2 genes, SSP03)TSC1, TSC2
    Paneles enfocadosTelangiectasia hemorragica hereditaria (HHT) (5 genes, SSP07)ACVRL1, ENG, GDF2, RASA1, SMAD4
    Paneles enfocadosNeurofibromatosis (3 genes, SSP08)NF1, NF2, SPRED1
    Paneles enfocadosHiperekplexia (3 genes, SSP09)GLRA1, GLRB, SLC6A5
    Paneles enfocadosHoloprosencephalia (9 genes, SSP10)CDON, FGFR1, GLI2, PTCH1, SHH, SIX3, TDGF1, TGIF1, ZIC2
    Paneles enfocadosEnfermedad Refsum (8 genes, SSP11)AMACR, PEX1, PEX2, PEX26, PEX3, PEX5, PEX7, PHYH
    Paneles enfocadosAtaxia episodica (9 genes, SSP12)ATP1A3, CACNA1A, CACNB4, FGF14, KCNA1, KCNQ2, SCN2A, SLC1A3, SLC2A1
    Paneles enfocadosDistonia respondedora a DOPA (3 genes, SSP13)GCH1, TH, SPR
    Paneles enfocadosSindrome de dolor neuropatico (4 genes, SSP14)SCN9A, SCN10A, SCN11A, TRPA1
    Paneles enfocadosHipertermia maligma (3 genes, SSP15)RYR1, CACNA1S, STAC3
    Paneles enfocadosColestasis intrahepatica familiar (4 genes, SSP16)ABCB11, ABCB4, ATP8B1, MYO5B
    Paneles enfocadosEnfermedad de orina con olor a jarabe de arce (4 genes, SSP17)BCKDHA, BCKDHB, DBT, DLD
    Paneles enfocadosDiabetes tipo MODY (MODY) (12 genes, SSP18)ABCC8, BLK, CEL, GCK, HNF1A, HNF1B, HNF4A, INS, KLF11, NEUROD1, PAX4, PDX1
    Paneles enfocadosSindrome Kabuki (5 genes, SSP19)KDM6A, KMT2D, CHD7, EYA1, IRF6
    Paneles enfocadosCraneosinostosis (7 genes, SSP20)FGFR1, FGFR2, FGFR3, TCF12, TWIST1, ERF, MSX2
    Sindromes tumoralesCancer Colorrectal (26 genes, CAN01)APC, AXIN2, BMPR1A, CDH1, CHEK2, EPCAM, FLCN, GREM1, MLH1, MSH2, MSH3, MSH6, MUTYH, NBN, NTHL1, PMS2, POLD1, POLE, PTEN, RINT1, RNF43, RPS20, SCG5, SMAD4, STK11, TP53
    Sindromes tumoralesSindromes de poliposis (14 genes, CAN11)APC, BMPR1A, CHEK2, GREM1, MSH3, MUTYH, NTHL1, POLD1, POLE, PTEN, RNF43, SCG5, SMAD4, STK11
    Sindromes tumoralesCancer gastrico (10 genes, CAN13)BRCA2, CDH1, EPCAM, IL1B, IL1RN, KIT, MLH1, MSH2, MSH6, PMS2
    Sindromes tumoralesSindrome Cowden (6 genes, CAN14)AKT1, PIK3CA, PTEN, SDHB, SDHD, SEC23B
    Sindromes tumoralesCancer pancreatico (17 genes, CAN06)APC, ATM, BRCA1, BRCA2, CDKN2A, EPCAM, MLH1, MSH2, MSH6, PALB2, PALLD, PMS2, PRSS1, SPINK1, STK11, TP53, VHL
    Sindromes tumoralesCancer de mama y ovario (12 genes, CAN02)ATM, BRCA1, BRCA2, CDH1, CHEK2, NBN, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53
    Sindromes tumoralesCancer de mama y ovario- extendido (40 genes, CAN21)ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, FAM175A, FANCA, FANCC, FANCD2, FANCE, FANCF, FANCG, HOXB13, MEN1, MLH1, MRE11A, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, PTCH1, PTEN, RAD50, RAD51C, RAD51D, RINT1, SDHB, SDHC, SDHD, SLX4, STK11, TP53, XRCC2
    Sindromes tumoralesCancer de prostata (11 genes, CAN03)BRCA1, BRCA2, CHEK2, EPCAM, HOXB13, MLH1, MSH2, MSH6, NBN, PMS2, TP53
    Sindromes tumoralesFeocromocitoma y paraganglioma (14 genes, CAN04)CDKN1B, MAX, MEN1, NF1, PRKAR1A, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, SRGAP1, TMEM127, VHL
    Sindromes tumoralesOtros sindromes familiares de tumores (53 genes, CAN05)AIP, AKT1, ALK, APC, ATR, BAP1, BLM, BRCA2, CDC73, CDH1, CDKN1C, CDKN2A, CYLD, DICER1, EPCAM, FH, HRAS, IL1B, IL1RN, KIT, LIG4, LZTR1, MET, MLH1, MSH2, MSH6, NBN, NF1, NF2, PIK3CA, PMS2, PTEN, RASAL1, RB1, RECQL4, RET, RHBDF2, SDHA, SDHB, SDHC, SDHD, SEC23B, SMARCA4, SMARCB1, SMARCE1, SPRED1, SUFU, TP53, TSC1, TSC2, VHL, WRN, YAP1
    Sindromes tumoralesTumores del sistema nervioso central (18 genes, CAN51)AIP, APC, BRCA2, MLH1, MSH2, MSH6, NF1, NF2, PMS2, PTEN, SDHA, SDHB, SDHD, SMARCE1, SPRED1, SUFU, TP53, VHL
    Sindromes tumoralesCarcinoma de celulas renales (28 genes, CAN07)BAP1, CCND1, CDC73, CHEK2, DIS3L2, EPCAM, FH, FLCN, HNF1A, HNF1B, MET, MITF, MLH1, MSH2, MSH6, PALB2, PMS2, PTEN, SDHA, SDHAF2, SDHB, SDHC, SDHD, TP53, TSC1, TSC2, VHL, WT1
    Sindromes tumoralesXeroderma pigmentosum (9 genes, CAN08)DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, POLH, XPA, XPC
    Sindromes tumoralesMelanoma (15 genes, CAN09)BAP1, BRCA2, CDK4, CDKN2A, EPCAM, MC1R, MITF, MLH1, MSH2, MSH6, PMS2, POT1, PTEN, RB1, TP53
    Sindromes tumoralesAnemia de Fanconi (21 genes, CAN10)BRCA1, BRCA2, BRIP1, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, MAD2L2, PALB2, RAD51, RAD51C, SLX4, UBE2T, XRCC2





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