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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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