GENÉTICA MÉDICA
Rama de la medicina que estudia la genética humana como herramienta para el diagnóstico y tratamiento de una enfermedad y/o síndrome.
Hoy, la Genética Médica es una rama transversal en salud, puesto que al detectar el origen de una enfermedad o de un síndrome se puede detectar su causa, comprender sus componentes, ver opciones de tratamiento o manejo, prevenir sus complicaciones y analizar los riesgos de ocurrencia y recurrencia en la familia, como Distrofia Muscular de Duchenne, mucopolisacaridosis, e incluso cáncer. Un buen diagnóstico otorga la posibilidad de una mejor calidad de vida para el (la) paciente y su familia.
El área de Genética Médica incluye paneles que emplean técnicas citogenéticas, moleculares y genómicas como la Secuenciación de Próxima Generación (NGS por sus siglas en inglés), Secuenciación Sanger, Amplificación de Sondas Dependiente de Ligandos Múltiples (MLPA), Electroforesis Capilar, Reacción en Cadena de la Polimerasa (PCR), entre otros. Así también, comprende el servicio de Asesoramiento Genético.
CARIOTIPO
El estudio del material genético empleando la técnica de cariotipo consiste en un cuidadoso examen del número y estructura de los cromosomas presentes en el núcleo celular del tejido a ser analizado. El cariotipo en sangre periférica requiere de un cultivo celular, una cosecha, una maduración de metafases y un bandeo específico para poder obtenerse un resultado útil para el médico solicitante.
HIBRIDACIÓN GENÓMICA COMPARATIVA
La Hibridación Genómica Comparativa consiste en un estudio citogenético de alta resolución para detectar pérdida o ganancia de información en los cromosomas. En ocasiones es requerida para respaldar un resultado de cariotipo.
EXOMA
El material genético se encuentra conformado por regiones codificantes y regiones no codificantes. Las regiones codificantes son aquellas que expresan información vital para el desarrollo normal de un organismo, pues comprenden los genes que expresan las distintas proteínas, dichas regiones son conocidas con el nombre de “exones”. El estudio de la información genética de más de 20.000 genes se conoce con el nombre de “Exoma”.
GENOMA
El estudio de todo el material genético es llamado estudio de “Genoma”, en este se analizan cuidadosamente las regiones codificantes (exones) y las regiones no codificantes (intrones).
GENES ESPECÍFICOS
Por la clínica de los (las) pacientes, en ocasiones es necesario enfocarse al estudio de un gen en específico, razón por la que GENÓMICA B-29 S.C.S. le ofrece el análisis de cualquier gen humano.
Se analizan 355 genes vinculados a problemas neuromusculares:
AARS1, ABHD5, ACAD9, ACADM, ACADVL, ACTA1, ACTG2, ADGRG6, AGL, AGRN, AHCY, AIFM1, ALDOA, ALG14, ALG2, AMPD1, ANO5, ARHGEF9, ASAH1, ASCC1, ATAD1, ATL1, ATP2A1, ATP7A, B3GALNT2, B4GAT1, BAG3, BICD2, BIN1, BSCL2, BVES, CACNA1S, CAPN3, CASK, CASQ1, CAV1, CAV3, CCDC78, CFL2, CHAT, CHCHD10, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CHST14, CLCN1, CNTNAP1, COL12A1, COL13A1, COL6A1, COL6A2, COL6A3, COLQ, COQ2, COX6A1, CPT2, CRLF1, CRPPA, CRYAB, CSRP3, CTDP1, DAG1, DCTN1, DES, DGUOK, DHCR24, DHTKD1, DMD, DMPK, DNA2, DNAJB2, DNAJB6, DNM2, DNMT1, DOK7, DPAGT1, DPM1, DPM2, DPM3, DYNC1H1, DYSF, ECEL1, EGR2, ELP1, EMD, ENO3, ERCC5, ERCC6, ETFA, ETFB, ETFDH, EXOSC3, EXOSC8, FBLN5, FBN2, FBXO38, FDX2, FGD4, FHL1, FIG4, FKBP10, FKBP14, FKRP, FKTN, FLAD1, FLNC, GAA, GAN, GARS1, GBA, GBE1, GDAP1, GFPT1, GJB1, GLDN, GLE1, GLRA1, GLRB, GMPPB, GNB4, GNE, GPHN, GYG1, GYS1, HADHA, HADHB, HINT1, HK1, HNRNPDL, HOXD10, HRAS, HSPB1, HSPB3, HSPB8, HSPG2, IGHMBP2, INF2, ISCU, ITGA7, KARS1, KAT6B, KBTBD13, KCNA1, KCNE3, KCNJ2, KIF1A, KIF1B, KIF5A, KLHL40, KLHL41, KLHL7, KY, LAMA2, LAMB2, LAMP2, LARGE1, LDB3, LDHA, LGI4, LIMS2, LITAF, LMNA, LMOD3, LPIN1, LRP4, LRSAM1, MAGEL2, MAMLD1, MARS1, MATR3, MED25, MEGF10, MFN2, MICU1, MOCS1, MPV17, MPZ, 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, MTM1, MTMR14, MTMR2, MUSK, MYBPC1, MYBPC3, MYH2, MYH3, MYH7, MYH8, MYL1, MYL2, MYMK, MYO18B, MYO9A, MYOT, MYPN, NALCN, NDRG1, NEB, NTRK1, OPA1, OPA3, PAX7, PDK3, PFKM, PGAM2, PGK1, PGM1, PHKA1, PIEZO2, PIP5K1C, PLEC, PLEKHG5, PLOD2, PMM2, PMP22, PNPLA2, POGLUT1, POLG, POLG2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PREPL, PRKAG2, PRPS1, PRX, PYGM, PYROXD1, QARS1, RAB7A, RAPSN, RBCK1, REEP1, RETREG1, RRM2B, RXYLT1, RYR1, SBF1, SBF2, SCN4A, SELENON, SGCA, SGCB, SGCD, SGCE, SGCG, SH3TC2, SIL1, SLC12A6, SLC16A1, SLC18A3, SLC22A5, SLC25A1, SLC25A20, SLC25A46, SLC52A2, SLC52A3, SLC5A7, SLC6A5, SMCHD1, SMN1, SMN2, SMPD4, SPEG, SPG11, SPTBN4, SPTLC1, SPTLC2, STAC3, STIM1, SUCLA2, SUN2, SYNE1, SYNE2, SYT2, TAFAZZIN, TANGO2, TBCK, TCAP, TFG, TGFB3, TIA1, TK2, TMEM43, TNNI2, TNNT1, TNNT3, TNPO3, TOR1A, TOR1AIP1, TPM2, TPM3, TRAPPC11, TRIM2, TRIM32, TRIP4, TRPV4, TSEN2, TSFM, TTN, TWNK, TYMP, UBA1, VAMP1, VAPB, VCP, VIPAS39, VMA21, VPS33B, VRK1, WNK1, XK, YARS1, ZC4H2.
Se analizan 327 genes vinculados a problemas cardiovasculares:
ABCC9, ACTA1, ACTA2, ACTC1, ACTN2, ACVR2B, ACVRL1, ADAMTS10, ADAMTS19, AGL, AKAP9, ALPK3, ANK2, ANKRD1, ANKS6, ARHGAP31, ATM, B3GAT3, BAG3, BCOR, BMPR2, BRAF, CACNA1C, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, CAVIN4, CBL, CCDC103, CCDC39, CCDC40, CDH2, CFAP298, CFAP300, CFAP53, CHD7, CITED2, CLDN16, CLDN19, CNNM2, COL1A1, COL1A2, COL3A1, COL4A1, COL4A2, COL5A1, COL5A2, COX15, CPT2, CREBBP, CRELD1, CRYAB, CSRP3, CTNNA3, DES, DLL4, DMD, DNAAF1, DNAAF11, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAAF6, DNAH11, DNAH5, DNAH9, DNAI1, DNAI2, DNAJC19, DNAL1, DOLK, DPP6, DSC2, DSG2, DSP, DTNA, EFEMP2, EGF, EHMT1, ELAC2, ELN, EMD, ENG, EOGT, EP300, EVC, EVC2, EYA4, FBN1, FBN2, FHL1, FKRP, FKTN, FLNA, FLNC, FOXC1, FOXF1, FOXH1, FOXJ1, FXYD2, GAA, GAS8, GATA4, GATA5, GATA6, GDF1, GDF2, GJA1, GJA5, GLA, GNB5, GPC3, GPD1L, HADHA, HAND1, HCCS, HCN4, HFE, HRAS, HTRA1, ILK, JAG1, JPH2, JUP, KANSL1, KCNA1, KCNA5, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNK3, KCNQ1, KDM6A, KLF10, KMT2D, KRAS, LAMA2, LAMA4, LAMP2, LDB3, LDLR, LDLRAP1, LEFTY2, LMNA, LRRC56, LZTR1, MAP2K1, MAP2K2, MED12, MED13L, MEIS2, MFAP5, MGP, MIB1, MMP15, MMP21, MMP3, MRAS, 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, MYBPC3, MYH11, MYH6, MYH7, MYL2, MYL3, MYL4, MYLK, MYLK2, MYO6, MYOM1, MYOZ2, MYPN, NEBL, NEXN, NF1, NIPBL, NKX2-5, NKX2-6, NME8, NODAL, NOTCH1, NOTCH2, NOTCH3, NPPA, NR2F2, NRAS, NSD1, ODAD1, ODAD2, ODAD3, ODAD4, PDLIM3, PKD1L1, PKD2, PKP2, PLN, PPP1CB, PRDM16, PRKAG2, PRKAR1A, PRKG1, PSEN1, PSEN2, PTPN11, RAF1, RANGRF, RARB, RASA1, RBM10, RBM20, RIT1, ROBO4, RYR1, RYR2, SALL1, SALL4, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCO2, SDHA, SELENON, SEMA3A, SGCD, SGCG, SHOC2, SKI, SLC12A3, SLC22A5, SLC25A4, SLC2A10, SLMAP, SMAD3, SMAD4, SMAD6, SMC3, SNTA1, SOS1, SOS2, SOX2, SPAG1, STRA6, SYNE1, SYNE2, TAB2, TAFAZZIN, TBX1, TBX20, TBX3, TBX5, TCAP, TECRL, TFAP2B, TGFB2, TGFB3, TGFBR1, TGFBR2, TLL1, TMEM43, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TRDN, TREX1, TRIM63, TRPM4, TRPM6, TTC12, TTN, TTR, VCL, ZEB2, ZFPM2, ZIC3, ZMYND10.
Se analizan 504 genes vinculados a problemas renales:
ABCB11, ABCB4, ABCC2, ACE, ACP5, ACTG2, ACTN4, ACVR2B, AGPS, AGT, AGTR1, AGXT, AHI1, AIPL1, AKR1D1, ALDOB, ALG8, ALG9, ALPL, AMER1, ANKH, ANKS6, ANLN, ANO5, ANOS1, AP2S1, ARHGAP31, ARHGDIA, ARL13B, ARL3, ARL6, ARMC5, ARMC9, ARSL, ATP6V0A4, ATP6V1B1, ATP8B1, ATR, AVPR2, B9D1, B9D2, BAAT, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCS1L, BICC1, BMP1, BMP4, BMPR1B, BNC2, BSND, C2CD3, CA2, CABP4, CANT1, CASP10, CASR, CC2D2A, CCDC103, CCDC28B, CCDC39, CCDC40, CCDC65, CCN6, CCNO, CD2AP, CDKN1C, CENPF, CENPJ, CEP120, CEP152, CEP164, CEP290, CEP41, CEP55, CEP83, CFAP298, CFAP418, CFAP53, CFTR, CHD1L, CHD7, CHRNA3, CHST3, CHSY1, CILK1, CLCN5, CLCNKA, CLCNKB, CLDN16, CLDN19, COL10A1, COL4A1, COL4A3, COL4A4, COL4A5, COL9A3, COMP, COQ2, COQ6, COQ8B, COQ9, CPLANE1, CRB1, CRB2, CRELD1, CRTAP, CRX, CSPP1, CTNS, CTU2, CUBN, CUL3, CWC27, CYP7B1, DCDC2, DDR2, DDX59, DGKE, DGUOK, DHCR7, DICER1, DLL3, DMP1, DNAAF1, DNAAF11, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH11, DNAH5, DNAI1, DNAI2, DNAJB11, DNAL1, DRC1, DSTYK, DUSP6, DYM, DYNC2H1, DYNC2I1, DYNC2I2, DYNC2LI1, DZIP1L, EBP, EIF2AK3, EMP2, ENPP1, ESCO2, EVC, EVC2, EXT1, EXT2, EYA1, FAH, FAM20C, FAN1, FAS, FASLG, FAT4, FEZF1, FGF17, FGF23, FGF8, FGFR1, FGFR2, FKBP10, FLNB, FLRT3, FN1, FOXP1, FRAS1, FREM1, FREM2, FSHB, FXYD2, GANAB, GATA3, GDF1, GDF5, GFM1, GHR, GLA, GLI2, GLI3, GLIS2, GLIS3, GNA11, GNAS, GNPAT, GNRH1, GNRHR, GPC3, GPC6, GREB1L, GRIP1, GUCY2D, HAAO, HAMP, HESX1, HEXA, HFE, HNF1B, HNF4A, HOXA13, HOXD13, HPSE2, HS6ST1, HSD11B2, HSD3B7, HSPG2, HYDIN, HYLS1, IFITM5, IFT122, IFT140, IFT172, IFT27, IFT43, IFT80, IFT81, IHH, IL17RD, IMPDH1, INF2, INPP5E, INPPL1, INVS, IQCB1, ITGA3, ITGA8, JAG1, KANK2, KCNJ1, KCNJ10, KCNJ13, KCNJ5, KDM6A, KIAA0586, KIF14, KIF22, KIF7, KISS1, KISS1R, KLHL3, KMT2D, KYNU, LAGE3, LAMB2, LBR, LCA5, LCAT, LCT, LEP, LEPR, LHB, LHX3, LHX4, LIFR, LMF1, LMX1B, LRAT, LRIG2, LRP4, LRP5, LZTFL1, MAFB, MAGI2, MAPKBP1, MATN3, MCEE, MERTK, MESP2, MGP, MKKS, MKS1, MMAA, MMAB, MMADHC, MMP13, MMP21, MMP9, MMUT, MPV17, MUC1, MYH9, MYO1E, MYO5B, MYO7A, MYOCD, NADSYN1, NBAS, NEK1, NEK8, NEUROG3, NIPBL, NKX2-5, NKX3-2, NME8, NMNAT1, NODAL, NOG, NOTCH2, NPC1, NPC2, NPHP1, NPHP3, NPHP4, NPHS1, NPHS2, NPR2, NR0B1, NR0B2, NR1H4, NR3C2, NSDHL, NSMF, NUP107, NUP93, OBSL1, OCRL, ODAD1, ODAD2, ODAD3, OFD1, OSGEP, OTX2, P3H1, PAPSS2, PAX2, PBX1, PCSK1, PDE4D, PDE6D, PDSS2, PEX1, PEX10, PEX12, PEX2, PEX26, PEX5, PEX6, PEX7, PHEX, PHF6, PIBF1, PKD1, PKD1L1, PKD2, PKHD1, PLCE1, PLOD2, PMM2, PNPLA6, POLG, POLR3B, POMC, POU1F1, PPARG, PPIB, PRKAR1A, PRKCSH, PROK2, PROKR2, PROM1, PROP1, PRPH2, PTH1R, PTHLH, PTPRO, RBBP8, RD3, RDH12, RDH5, REN, RET, RHO, RLBP1, RMND1, RNF216, ROBO1, ROBO2, ROR2, RPE65, RPGRIP1, RPGRIP1L, RRM2B, RSPH1, RSPH4A, RSPH9, RUNX2, SALL1, SALL4, SBDS, SCARB2, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SEC61A1, SEC63, SEMA3A, SERPINA1, SERPINF1, SERPINH1, SGPL1, SH3PXD2B, SIX1, SIX2, SIX5, SLC12A1, SLC12A3, SLC25A13, SLC25A15, SLC26A2, SLC26A3, SLC2A2, SLC34A1, SLC34A3, SLC35D1, SLC4A1, SLC4A4, SLCO1B1, SLCO1B3, SLIT2, SMARCAL1, SMPD1, SOX10, SOX11, SOX17, SOX2, SOX3, SOX9, SPAG1, SPATA7, SPINT2, SPRY4, STRA6, SUFU, TAC3, TACR3, TBC1D1, TBX15, TBX18, TBX3, TBX5, TCTN1, TCTN2, TCTN3, TFR2, TJP2, TMEM107, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TNFRSF11B, TP53RK, TPRKB, TRAF3IP1, TRAP1, TRIM32, TRIP11, TRMU, TRPC6, TRPS1, TRPV4, TSC1, TSC2, TTC21B, TTC37, TTC8, TULP1, TXNDC15, UGT1A1, UMOD, UPK3A, VHL, VIPAS39, VPS33B, WDR11, WDR19, WDR35, WDR4, WDR73, WNK1, WNK4, WNT4, WNT5A, WNT7A, WT1, XPNPEP3, XYLT1, ZIC3, ZMYND10, ZNF423.
Se analizan 450 genes vinculados a problemas visuales:
ABCA4, ABCB6, ABHD12, ACO2, ACVR1, ADAM9, ADAMTS18, ADAMTSL4, ADGRV1, AFG3L2, AGBL5, AGK, AHI1, AIPL1, ALDH18A1, ALDH1A3, AP3B1, APTX, ARHGEF18, ARL13B, ARL2BP, ARL6, ARSG, ASB10, ATF6, ATOH7, AUH, B9D1, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCOR, BEST1, BFSP1, BFSP2, BLOC1S3, BLOC1S6, BMP4, C1QTNF5, C2CD3, CA4, CABP4, CACNA1F, CACNA2D4, CANT1, CAPN5, CC2D2A, CCDC28B, CDH23, CDH3, CDHR1, CEP104, CEP120, CEP164, CEP290, CEP41, CERKL, CFAP418, CHD7, CHM, CHMP4B, CIB2, CISD2, CLCN7, CLN3, CLN5, CLN6, CLN8, CLPB, CLRN1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL11A1, COL11A2, COL2A1, COL4A1, COL9A1, COL9A2, COL9A3, COX7B, CPLANE1, CRB1, CRX, CRYAA, CRYAB, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC, CRYGD, CRYGS, CSPP1, CTC1, CTDP1, CTNNA1, CTNNB1, CTSD, CWC27, CYP1B1, CYP27A1, CYP4V2, DGUOK, DHDDS, DHX38, DKC1, DNA2, DNAJC19, DNM1L, DRAM2, DTNBP1, EDN3, EDNRB, EFEMP1, ELOVL4, ENPP1, EPHA2, ERCC1, ERCC2, ERCC5, ERCC6, ERCC8, EYA1, EYS, FAM126A, FAM161A, FDXR, FLVCR1, FOXC1, FOXL2, FRAS1, FREM1, FREM2, FSCN2, FTL, FYCO1, FZD4, GALE, GALK1, GALT, GBA, GCNT2, GDF3, GDF6, GJA1, GJA3, GJA8, GNAT2, GNPTG, GPR143, GRIP1, GRN, GUCA1A, GUCA1B, GUCY2D, HARS1, HCCS, HESX1, HEXA, HGSNAT, HK1, HMX1, HPS1, HPS3, HPS4, HPS5, HPS6, HSF4, HTRA2, IDH3B, IFT140, IFT172, IFT27, IMPDH1, IMPG1, IMPG2, INPP5E, IQCB1, KATNIP, KCNJ13, KCNV2, KIAA0586, KIF11, KIF7, KIT, KLHL7, LCA5, LEMD2, LEP, LEPR, LIM2, LMX1B, LOXL1, LRAT, LRMDA, LRP2, LRP5, LSS, LTBP2, LYST, LZTFL1, MAB21L2, MAF, MAK, MC1R, MECR, MERTK, MFN2, MFRP, MFSD8, MIP, MITF, MKKS, MKS1, MLPH, 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, MTRFR, MYH9, MYO5A, MYO7A, MYOC, NAA10, NDP, NF2, NHS, NMNAT1, NPHP1, NPHP3, NPHP4, NR0B2, NR2F1, NRL, NTF4, OCA2, OCRL, OFD1, OPA1, OPA3, OPN1LW, OPTN, OSTM1, OTX2, P3H2, PAX2, PAX3, PAX6, PCARE, PCDH15, PDE6A, PDE6B, PDE6C, PDE6G, PDE6H, PDZD7, PEX1, PEX2, PEX7, PHF6, PHYH, PIK3R5, PITPNM3, PITX2, PITX3, PLA2G5, PNKP, PNPLA6, POC1B, POLG, POLG2, POMC, POMGNT1, PPARG, PPT1, PQBP1, PRCD, PRKCG, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, PRPS1, PRSS56, PXDN, RAB18, RAB27A, RAB28, RAB3GAP1, RAB3GAP2, RARB, RAX, RAX2, RBP3, RBP4, RD3, RDH12, RDH5, REEP6, RGR, RGS9, RGS9BP, RHO, RIMS1, RLBP1, ROM1, RP1, RP1L1, RP2, RPE65, RPGR, RPGRIP1, RPGRIP1L, RRM2B, RS1, RTN4IP1, SAG, SBF2, SDCCAG8, SEMA4A, SERAC1, SETX, SHH, SIL1, SIX3, SIX6, SLC16A12, SLC24A5, SLC25A4, SLC25A46, SLC33A1, SLC38A8, SLC45A2, SLC52A2, SLC7A14, SLC9A6, SMCHD1, SMOC1, SNAI2, SNRNP200, SNX10, SOX10, SOX2, SPATA7, SPG7, STRA6, TBC1D20, TBK1, TCIRG1, TCTN1, TCTN2, TCTN3, TDRD7, TEK, TENM3, TFAP2A, TIMM50, TIMM8A, TIMP3, TK2, TMEM107, TMEM126A, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TMEM70, TNFRSF11A, TNFSF11, TOPORS, TPP1, TRAF3IP1, TRIM32, TRNT1, TSPAN12, TTC21B, TTC8, TTLL5, TTPA, TULP1, TWNK, TYMP, TYR, TYRP1, USH1C, USH1G, USH2A, VCAN, VIM, VPS13B, VSX2, WDPCP, WDR19, WDR36, WFS1, WHRN, WRN, ZIC2, ZNF408, ZNF423, ZNF513.
Se analizan 29 genes vinculados a problemas del páncreas:
ABCB4, APC, APOA5, APOC2, ATM, BMPR1A, BRCA1, BRCA2, CASR, CDKN2A, CFTR, CPA1, CTRC, EPCAM, GPIHBP1, LPL, MEN1, MLH1, MSH2, MSH6, PALB2, PMS2, PRSS1, SMAD4, SPINK1, STK11, TP53, UBR1, VHL
También se realiza secuenciación Sanger para el exón 10 del gen CFTR.
Se analizan 101 genes vinculados a problemas pulmonares:
ABCA3, ABCC8, ACVRL1, AP3B1, AQP1, ASCL1, BLOC1S3, BMPR1B, BMPR2, CAV1, CCDC39, CCDC40, CFAP300, CFTR, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, COLQ, CSF2RB, DKC1, DNAAF1, DNAAF2, DNAAF6, DNAH1, DNAH11, DNAH5, DNAH9, DNAI1, DNAI2, DNAL1, DOCK8, DTNBP1, EDN3, EFEMP2, EIF2AK4, ELN, ENG, FAM111B, FBLN5, FBN1, FLCN, FOXF1, GAS8, GDF2, GDNF, GLRA1, HPS1, HPS3, HPS4, HPS5, HPS6, ITGA3, KCNA5, KCNK3, MECP2, NEK10, NF1, NFU1, NKX2-1, NME8, NOP10, NOTCH3, PARN, PHOX2A, PHOX2B, POLD1, RAPSN, RASA1, RET, RSPH1, RSPH3, RSPH4A, RSPH9, RTEL1, SARS2, SCN4A, SCNN1A, SCNN1B, SCNN1G, SERPINA1, SFTPA2, SFTPB, SFTPC, SLC34A2, SLC6A5, SLC7A7, SMAD4, SMAD9, SMPD1, SOX17, STAT3, STING1, STRA6, TBX4, TERT, TINF2, TSC1, TSC2, ZEB2.
También se realiza el análisis de la expansión de repeticiones del gen PHOX2B.
Se analizan 160 genes vinculados a problemas de la piel:
ABCA12, ABHD5, ACD, ALAD, ALAS2, ALDH18A1, ALDH3A2, ALOX12B, ALOXE3, AP1S1, AP3B1, AP3D1, APCDD1, ARHGAP31, ARSL, ATP6V0A2, ATP7A, BLOC1S3, BLOC1S6, CASP14, CDSN, CERS3, CHST8, CLDN1, COL17A1, COL5A1, COL7A1, CPOX, CSTA, CTC1, CYP4F22, DDB2, DKC1, DLL4, DOCK6, DSG1, DSG4, DSP, DST, DTNBP1, EBP, EDA, EDAR, EDARADD, EDN3, EDNRB, EFEMP2, ELN, ELOVL4, EOGT, EPG5, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, EXPH5, FBLN5, FECH, FERMT1, FLG, FLG2, GJB2, GJB3, GJB4, GJB6, GPR143, GTF2H5, HMBS, HPS1, HPS3, HPS4, HPS5, HPS6, HR, ITGA3, ITGA6, ITGB4, JUP, KCTD1, KDSR, KITLG, KRT1, KRT10, KRT14, KRT2, KRT5, KRT74, KRT85, KRT9, LAMA3, LAMB3, LAMC2, LIPH, LIPN, LORICRIN, LPAR6, LRMDA, LYST, MBTPS2, MC1R, MITF, MLPH, MMP1, MPLKIP, MYH9, MYO5A, NECTIN1, NHP2, NIPAL4, NOP10, NOTCH1, NSDHL, OCA2, PARN, PAX3, PEX7, PHGDH, PHYH, PKP1, PLEC, PNPLA1, POLH, POMP, PPOX, PSAT1, PYCR1, RAB27A, RBPJ, RPL21, RTEL1, SDR9C7, SERPINB8, SLC24A5, SLC27A4, SLC38A8, SLC45A2, SNAI2, SNAP29, SNRPE, SOX10, SPINK5, ST14, STS, SUMF1, TERT, TGM1, TGM5, TINF2, TYR, TYRP1, UROD, UROS, USB1, VPS33B, WNT10A, WRAP53, XPA, XPC, ZMPSTE24.
Se analizan 1902 genes vinculados a problemas neurológicos:
AAAS, AARS1, AARS2, AASS, ABAT, ABCA1, ABCA7, ABCB6, ABCB7, ABCC6, ABCC8, ABCD1, ABCD3, ABCD4, ABHD12, ABHD5, ACACA, ACAD8, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACE, ACHE, ACO2, ACOX1, ACSF3, ACSL4, ACTA1, ACTA2, ACTB, ACTG1, ACTG2, ACTL6B, ACTN4, ACVRL1, ACY1, ADA, ADAM10, ADAM22, ADAMTS10, ADAMTSL2, ADAR, ADAT3, ADCY5, ADGRG1, ADGRG6, ADGRV1, ADK, ADNP, ADPRS, ADSL, AFF2, AFF3, AFG3L2, AGA, AGK, AGL, AGPS, AGRN, AGTPBP1, AGXT, AHCY, AHDC1, AHI1, AIFM1, AIMP1, AIMP2, AK2, AKT3, ALAD, ALAS2, ALDH18A1, ALDH2, ALDH3A2, ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1, ALDOA, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG14, ALG2, ALG3, ALG6, ALG8, ALG9, ALPL, ALS2, ALX1, ALX3, ALX4, AMACR, AMMECR1, AMPD1, AMPD2, AMT, ANG, ANK2, ANK3, ANKLE2, ANKRD11, ANO10, ANO3, ANO5, ANTXR2, ANXA11, AP1S1, AP1S2, AP2M1, AP3B1, AP3B2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, APOE, APP, APTX, ARFGEF2, ARG1, ARHGAP31, ARHGEF10, ARHGEF6, ARHGEF9, ARID1A, ARID1B, ARID2, ARL13B, ARL6, ARL6IP1, ARSA, ARSB, ARSL, ARV1, ARX, ASAH1, ASCC1, ASCL1, ASH1L, ASL, ASNS, ASPA, ASPM, ASS1, ASTN2, ASXL1, ASXL3, ATAD1, ATCAY, ATIC, ATL1, ATM, ATN1, ATP13A2, ATP1A1, ATP1A2, ATP1A3, ATP2A1, ATP2A2, ATP2B3, ATP2B4, ATP5F1A, ATP5F1E, ATP6AP1, ATP6AP2, ATP6V0A2, ATP6V1A, ATP7A, ATP7B, ATP8A2, ATPAF2, ATR, ATRX, AUH, AUTS2, B3GALNT2, B3GLCT, B4GALNT1, B4GALT1, B4GAT1, B9D1, B9D2, BAG3, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCAP31, BCKDHA, BCKDHB, BCKDK, BCL11A, BCOR, BCS1L, BDNF, BEST1, BICD2, BIN1, BLOC1S1, BLOC1S3, BLOC1S6, BOLA3, BRAF, BRAT1, BRWD3, BSCL2, BSND, BTD, BVES, C12orf4, C12orf57, C19orf12, C1QBP, CA2, CA5A, CA8, CACNA1A, CACNA1B, CACNA1C, CACNA1D, CACNA1E, CACNA1F, CACNA1G, CACNA1H, CACNA1S, CACNA2D2, CACNB2, CACNB4, CAD, CAMK2A, CAMK2B, CAMK2G, CAMTA1, CAPN1, CAPN3, CARD11, CARS2, CASK, CASQ1, CASR, CAT, CAV1, CAV3, CAVIN1, CBL, CBS, CC2D1A, CC2D2A, CCDC115, CCDC22, CCDC40, CCDC78, CCDC88A, CCDC88C, CCM2, CCNF, CCT5, CD320, CD59, CD96, CDH11, CDH15, CDK5RAP2, CDKL5, CDON, CEL, CENPF, CENPJ, CEP135, CEP152, CEP164, CEP290, CEP41, CEP63, CERS1, CERT1, CFAP418, CFL2, CHAMP1, CHAT, CHCHD10, CHCHD2, CHD1, CHD2, CHD3, CHD7, CHD8, CHKB, CHL1, CHMP1A, CHMP2B, CHRNA1, CHRNA2, CHRNA4, CHRNA7, CHRNB1, CHRNB2, CHRND, CHRNE, CHRNG, CHST14, CHSY1, CIB2, CIC, CILK1, CISD2, CIT, CLCN1, CLCN2, CLCN4, CLCNKA, CLCNKB, CLDN16, CLDN19, CLN3, CLN5, CLN6, CLN8, CLP1, CLPB, CLPP, CLTC, CNBP, CNGB3, CNKSR2, CNNM2, CNPY3, CNTN4, CNTNAP1, CNTNAP2, COA5, COA6, COA7, COA8, COASY, COG1, COG4, COG5, COG6, COG7, COG8, COL11A2, COL12A1, COL13A1, COL2A1, COL4A1, COL4A2, COL6A1, COL6A2, COL6A3, COLGALT1, COLQ, COMT, COQ2, COQ4, COQ6, COQ7, COQ8A, COQ8B, COQ9, COX10, COX14, COX15, COX20, COX4I2, COX6A1, COX6B1, COX7B, CP, CPA6, CPLANE1, CPLX1, CPOX, CPS1, CPT1A, CPT1C, CPT2, CRADD, CRBN, CREBBP, CRIPT, CRLF1, CRPPA, CRYAB, CSF1R, CSMD1, CSNK2B, CSPP1, CSRP3, CST3, CSTB, CTC1, CTCF, CTDP1, CTNNA2, CTNNA3, CTNNB1, CTNS, CTSA, CTSC, CTSD, CTSF, CTSK, CUL3, CUL4B, CUL7, CUX1, CUX2, CWF19L1, CX3CR1, CYB5A, CYB5R3, CYC1, CYCS, CYFIP2, CYLD, CYP11A1, CYP11B1, CYP11B2, CYP24A1, CYP27A1, CYP27B1, CYP2U1, CYP7B1, D2HGDH, DAB1, DAG1, DARS1, DARS2, DBT, DCAF17, DCTN1, DCX, DDC, DDHD1, DDHD2, DDOST, DDX3X, DEAF1, DEGS1, DENND5A, DEPDC5, DES, DGUOK, DHCR24, DHCR7, DHDDS, DHFR, DHH, DHODH, DHPS, DHTKD1, DHX30, DIABLO, DIAPH1, DIAPH3, DIP2B, DKC1, DLAT, DLD, DLG3, DLG4, DLGAP2, DLL3, DLX3, DMD, DMGDH, DMPK, DMXL2, DNA2, DNAJB2, DNAJB6, DNAJC12, DNAJC13, DNAJC19, DNAJC5, DNAJC6, DNM1, DNM1L, DNM2, DNMT1, DNMT3A, DOCK3, DOCK6, DOCK7, DOCK8, DOK7, DOLK, DPAGT1, DPF2, DPM1, DPM2, DPM3, DPP6, DPYD, DPYS, DRD3, DST, DSTYK, DTNBP1, DVL3, DYM, DYNC1H1, DYNC2H1, DYRK1A, DYSF, EARS2, EBF3, EBP, ECEL1, ECHS1, EDC3, EDN3, EDNRB, EEF1A2, EFHC1, EFTUD2, EGF, EGR2, EHMT1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF2S3, EIF3F, EIF4G1, ELAC2, ELOVL4, ELOVL5, ELP1, ELP2, EMC10, EMD, EML1, EMX2, ENO3, ENTPD1, EP300, EPB41L1, EPG5, EPHX2, EPM2A, EPRS1, ERBB4, ERCC1, ERCC2, ERCC5, ERCC6, ERCC8, ERLIN1, ERLIN2, ESCO2, ETFA, ETFB, ETFDH, ETHE1, EWSR1, EXOC6B, EXOSC3, EXOSC8, EXOSC9, EXT1, EZH2, F2, F5, FA2H, FADD, FAH, FAM126A, FAN1, FANCB, FARS2, FARSB, FASTKD2, FAT2, FBLN5, FBN1, FBN2, FBXL4, FBXO11, FBXO38, FBXO7, FDX2, FDXR, FECH, FEZF1, FGA, FGD1, FGD4, FGF10, FGF12, FGF14, FGFR2, FGFR3, FH, FHL1, FIG4, FKBP10, FKBP14, FKRP, FKTN, FLAD1, FLNA, FLNC, FLVCR1, FLVCR2, FMN2, FOLR1, FOXC1, FOXG1, FOXL2, FOXP1, FOXP2, FOXRED1, FRMD7, FRMPD4, FRRS1L, FTL, FTO, FTSJ1, FUCA1, FUS, FUT8, FXN, FXR1, FXYD2, G6PD, GAA, GABBR2, GABRA1, GABRA2, GABRA5, GABRB1, GABRB2, GABRB3, GABRD, GABRE, GABRG2, GAD1, GALC, GALNS, GALT, GAMT, GAN, GARS1, GATAD2B, GATM, GBA, GBA2, GBE1, GCDH, GCH1, GCK, GCSH, GDAP1, GDI1, GDNF, GFAP, GFER, GFM1, GFM2, GFPT1, GIGYF2, GJA1, GJB1, GJB3, GJC2, GK, GLA, GLB1, GLDC, GLDN, GLE1, GLI2, GLI3, GLO1, GLRA1, GLRB, GLRX5, GLUD1, GLUL, GLYCTK, GM2A, GMPPA, GMPPB, GNAL, GNAO1, GNAQ, GNAS, GNB1, GNB4, GNB5, GNE, GNPAT, GNPTAB, GNPTG, GNS, GOSR2, GOT2, GPAA1, GPC3, GPC4, GPC6, GPHN, GPI, GPT2, GPX1, GRHPR, GRIA1, GRIA2, GRIA3, GRIA4, GRID2, GRIK2, GRIN1, GRIN2A, GRIN2B, GRIN2D, GRIP1, GRM1, GRN, GSN, GSR, GSS, GTPBP2, GTPBP3, GUF1, GUSB, GYG1, GYS1, HACE1, HADH, HADHA, HADHB, HAMP, HARS2, HAX1, HBB, HCCS, HCFC1, HCN1, HDAC4, HDAC8, HECW2, HEPACAM, HERC2, HESX1, HEXA, HEXB, HGSNAT, HIBCH, HIKESHI, HINT1, HIVEP2, HK1, HLCS, HMBS, HMGCL, HMGCS2, HNMT, HNRNPA1, HNRNPA2B1, HNRNPDL, HNRNPH2, HNRNPR, HNRNPU, HOGA1, HOXA1, HOXD10, HPCA, HPD, HPRT1, HPS1, HPS4, HPS5, HPS6, HRAS, HSD11B1, HSD17B10, HSD17B4, HSD3B2, HSPA9, HSPB1, HSPB3, HSPB8, HSPD1, HSPG2, HTRA1, HTRA2, HUWE1, HYAL1, HYDIN, IARS2, IBA57, IDH2, IDH3B, IDS, IDUA, IER3IP1, IFIH1, IFT140, IFT172, IFT27, IGBP1, IGF1, IGF1R, IGHMBP2, IL1RAPL1, IMPA1, INF2, INPP5E, INVS, IQSEC2, IRF2BPL, IRX5, ISCA1, ISCA2, ISCU, ITGA7, ITGB3, ITM2B, ITPA, ITPR1, IVD, JAG1, JAM2, JAM3, KANK1, KANSL1, KARS1, KAT6A, KAT6B, KAT8, KATNB1, KBTBD13, KCNA1, KCNA2, KCNB1, KCNC1, KCNC3, KCND3, KCNE3, KCNH1, KCNJ1, KCNJ10, KCNJ2, KCNK18, KCNK4, KCNK9, KCNMA1, KCNQ2, KCNQ3, KCNQ5, KCNT1, KCNT2, KCTD17, KCTD3, KCTD7, KDM4B, KDM5B, KDM5C, KDM6A, KIAA1109, KIDINS220, KIF11, KIF14, KIF1A, KIF1B, KIF1C, KIF21A, KIF2A, KIF5A, KIF5C, KIF7, KIFBP, KIRREL3, KLHL40, KLHL41, KLHL7, KMT2A, KMT2B, KMT2C, KMT2D, KMT2E, KMT5B, KNL1, KPTN, KRAS, KRIT1, KRT5, KRT8, KY, L1CAM, L2HGDH, LAMA1, LAMA2, LAMB1, LAMB2, LAMC3, LAMP2, LARGE1, LARS2, LAT, LBR, LDB3, LDHA, LEP, LGI1, LGI4, LHX3, LHX4, LIAS, LIMS2, LINS1, LIPA, LIPT1, LIPT2, LITAF, LMAN2L, LMBRD1, LMNA, LMNB1, LMOD3, LMX1B, LONP1, LPIN1, LRBA, LRP1, LRP10, LRP2, LRP4, LRPPRC, LRRK2, LRSAM1, LYRM7, LYST, LZTFL1, LZTR1, MACF1, MAF, MAG, MAGEL2, MAGI2, MAGT1, MAMLD1, MAN1B1, MAN2B1, MANBA, MAOA, MAP2K1, MAP2K2, MAPT, MARS1, MARS2, MASP1, MATR3, MBD5, MBOAT7, MBTPS2, MCCC1, MCCC2, MCEE, MCM4, MCM6, MCOLN1, MCPH1, MDH2, MECP2, MECR, MED12, MED13, MED13L, MED17, MED23, MED25, MEF2C, MEGF10, MEIS2, METTL23, MFF, MFN2, MFRP, MFSD2A, MFSD8, MGAT2, MGME1, MIB1, MICU1, MID1, MIPEP, MITF, MKKS, MKS1, MLC1, MLPH, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MMUT, MOCS1, MOCS2, MOGS, MPC1, MPDU1, MPDZ, MPI, MPV17, MPZ, MRE11, MRPL3, MRPL44, MRPS16, MRPS2, MRPS22, MRPS34, MSMO1, MSR1, MSRB3, MSTO1, MSX1, MSX2, MTFMT, MTHFD1, MTHFR, MTHFS, MTM1, MTMR14, MTMR2, MTO1, MTOR, MTPAP, MTR, MTRFR, MTRR, MTTP, MUSK, MYBPC1, MYBPC3, MYCN, MYH2, MYH3, MYH7, MYH8, MYL1, MYL2, MYMK, MYO18B, MYO1E, MYO5A, MYO9A, MYO9B, MYORG, MYOT, MYPN, MYT1L, NAA10, NAA15, NACC1, NADK2, NAGA, NAGLU, NAGS, NALCN, NARS2, NAXD, NAXE, NBAS, NBEA, NCAPD3, NDE1, NDP, NDRG1, NDST1, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA6, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB11, NDUFB3, NDUFB8, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEB, NECAP1, NECTIN1, NEDD4L, NEFH, NEK1, NEK10, NEU1, NEUROD2, NEXMIF, NF1, NFE2L2, NFIA, NFIB, NFIX, NFU1, NGF, NGLY1, NHEJ1, NHLRC1, NHS, NIPA1, NIPBL, NKX6-2, NLGN3, NLGN4X, NLRP12, NLRP3, NNT, NOTCH1, NOTCH2, NOTCH3, NPC1, NPC2, NPHP1, NPHP3, NPR2, NPRL2, NPRL3, NR2F1, NR3C2, NRXN1, NSD1, NSD2, NSDHL, NSMCE3, NSUN2, NT5C2, NTHL1, NTRK1, NTRK2, NUBPL, NUP133, NUP62, NUS1, OAT, OCLN, OCRL, ODAD4, OFD1, OGDH, OPA1, OPA3, OPHN1, OPTN, ORC1, OSGEP, OTC, OTUD6B, OXCT1, P4HA2, P4HB, P4HTM, PACS1, PACS2, PAFAH1B1, PAH, PAK1, PAK3, PAM16, PANK2, PARK7, PARS2, PAX3, PAX6, PAX7, PBX1, PC, PCBD1, PCCA, PCCB, PCDH12, PCDH15, PCDH19, PCK2, PCNT, PCYT2, PDCD1, PDCD10, PDE10A, PDE6D, PDE8B, PDGFB, PDGFRB, PDHA1, PDHB, PDHX, PDK3, PDP1, PDSS1, PDSS2, PDX1, PDYN, PER2, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PFN1, PGAM2, PGAP1, PGAP2, PGK1, PGM1, PHACTR1, PHF6, PHF8, PHGDH, PHIP, PHKA1, PHOX2B, PHYH, PIEZO2, PIGA, PIGB, PIGC, PIGG, PIGH, PIGL, PIGN, PIGO, PIGP, PIGQ, PIGS, PIGT, PIGU, PIGV, PIGW, PIK3CA, PIK3R2, PIK3R5, PINK1, PIP5K1C, PITX1, PITX2, PKLR, PLA2G6, PLAA, PLCB1, PLCG2, PLEC, PLEKHG2, PLEKHG5, PLK1, PLK4, PLN, PLOD2, PLP1, PLPBP, PLXNB3, PMM2, PMP22, PMPCA, PMPCB, PNKD, PNKP, PNPLA2, PNPLA6, PNPLA8, PNPO, PNPT1, POGLUT1, POGZ, POLA1, POLG, POLG2, POLR1C, POLR1D, POLR3A, POLR3B, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PON1, POP1, PORCN, POT1, POU1F1, PPM1D, PPOX, PPP2CA, PPP2R1A, PPP2R5D, PPP3CA, PPT1, PQBP1, PREPL, PRF1, PRICKLE1, PRICKLE2, PRKAG2, PRKCA, PRKCG, PRKN, PRKRA, PRMT7, PRNP, PRODH, PROP1, PRPH, PRPS1, PRRT2, PRRX1, PRSS12, PRX, PSAP, PSAT1, PSEN1, PSEN2, PSMD12, PSPH, PTCH1, PTCHD1, PTEN, PTF1A, PTPN11, PTPN23, PTPRC, PTRH2, PTS, PUM1, PURA, PUS1, PUS3, PXDN, PYCR1, PYCR2, PYGM, PYROXD1, QARS1, QDPR, QRICH1, RAB11A, RAB11B, RAB18, RAB27A, RAB39B, RAB3GAP1, RAB3GAP2, RAB7A, RAC1, RAD21, RAD50, RAF1, RAI1, RALA, RALGAPA1, RAP1GDS1, RAPSN, RARS1, RARS2, RBBP8, RBCK1, RBFOX1, RBM10, RBM8A, RDH11, REEP1, REEP2, RELN, RERE, REST, RET, RETREG1, RFT1, RHOBTB2, RIMS1, RIN2, RMND1, RNASEH1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF113A, RNF13, RNF135, RNF168, RNF170, RNF216, ROBO2, ROGDI, ROR2, RORA, RORB, RPGRIP1L, RPIA, RPL10, RPL35A, RPS14, RPS6KA3, RRM2B, RTN2, RTN4IP1, RTTN, RUBCN, RUSC2, RXYLT1, RYR1, SACS, SALL1, SAMD9L, SAMHD1, SARS2, SASH1, SASS6, SATB2, SBDS, SBF1, SBF2, SC5D, SCARB2, SCN10A, SCN1A, SCN1B, SCN2A, SCN3A, SCN4A, SCN8A, SCN9A, SCO1, SCO2, SCYL1, SDCCAG8, SDHA, SDHAF1, SDHAF2, SDHB, SDHD, SEC23B, SECISBP2, SELENOI, SELENON, SEMA5A, SEMA6B, SEPSECS, SERAC1, SERPINI1, SET, SETBP1, SETD1A, SETD2, SETD5, SETX, SF3B1, SFXN4, SGCA, SGCB, SGCD, SGCE, SGCG, SGSH, SH3TC2, SHANK2, SHH, SHOC2, SHROOM4, SIGMAR1, SIK1, SIL1, SIN3A, SIX3, SKI, SLC12A3, SLC12A5, SLC12A6, SLC13A3, SLC13A5, SLC16A1, SLC16A2, SLC17A5, SLC18A3, SLC19A2, SLC19A3, SLC1A1, SLC1A2, SLC1A3, SLC1A4, SLC20A2, SLC22A5, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A26, SLC25A3, SLC25A38, SLC25A4, SLC25A42, SLC25A46, SLC27A4, SLC2A1, SLC2A10, SLC30A10, SLC33A1, SLC35A1, SLC35A2, SLC35A3, SLC35C1, SLC39A14, SLC39A8, SLC3A1, SLC4A10, SLC4A4, SLC52A2, SLC52A3, SLC5A7, SLC6A1, SLC6A17, SLC6A19, SLC6A3, SLC6A4, SLC6A5, SLC6A8, SLC6A9, SLC7A7, SLC9A6, SLC9A9, SLCO1B3, SMAD4, SMARCA2, SMARCA4, SMARCB1, SMARCC2, SMARCE1, SMC1A, SMC3, SMCHD1, SMPD1, SMPD4, SMS, SNAI2, SNAP25, SNAP29, SNCA, SNCB, SNIP1, SNTA1, SNX14, SNX27, SOBP, SOD1, SOD2, SON, SORL1, SOS1, SOX10, SOX11, SOX2, SOX3, SOX5, SPART, SPAST, SPATA5, SPEG, SPG11, SPG21, SPG7, SPR, SPTAN1, SPTBN2, SPTBN4, SPTLC1, SPTLC2, SQSTM1, SRCAP, SRD5A3, SSR4, ST3GAL3, ST3GAL5, STAC3, STAG1, STAMBP, STAR, STAT1, STAT2, STIL, STIM1, STRA6, STRADA, STT3A, STUB1, STX1B, STXBP1, SUCLA2, SUCLG1, SUGCT, SUMF1, SUN2, SUOX, SURF1, SYN1, SYN2, SYNE1, SYNE2, SYNGAP1, SYNJ1, SYP, SYT2, SZT2, TACO1, TAF1, TAF13, TAF15, TAF2, TAF6, TAFAZZIN, TANGO2, TAOK1, TARDBP, TARS2, TBC1D20, TBC1D23, TBC1D24, TBCD, TBCE, TBCK, TBK1, TBL1XR1, TBR1, TBX1, TBX3, TCAP, TCF20, TCF4, TCIRG1, TCOF1, TCTN1, TCTN2, TCTN3, TDP1, TDP2, TECPR2, TECR, TECTA, TENM4, TET2, TFAP2A, TFAP2B, TFG, TFR2, TG, TGFB1, TGFB3, TGIF1, TGM6, TH, THAP1, THRA, THRB, TIA1, TIMM50, TIMM8A, TIMMDC1, TINF2, TK2, TLK2, TMCO1, TMEM106B, TMEM126A, TMEM126B, TMEM138, TMEM165, TMEM199, TMEM216, TMEM230, TMEM231, TMEM237, TMEM240, TMEM43, TMEM67, TMEM70, TMLHE, TMTC3, TMX2, TNIK, TNK2, TNNI2, TNNT1, TNNT3, TNPO3, TOE1, TOP3A, TOR1A, TOR1AIP1, TPI1, TPK1, TPM2, TPM3, TPO, TPP1, TRAF3IP1, TRAF7, TRAK1, TRAPPC11, TRAPPC4, TRAPPC9, TREM2, TREX1, TRIM2, TRIM32, TRIM8, TRIO, TRIP12, TRIP4, TRIT1, TRMT10A, TRMT10C, TRMT5, TRMU, TRNT1, TRPC6, TRPM1, TRPM6, TRPS1, TRPV4, TRRAP, TSC1, TSC2, TSEN15, TSEN2, TSEN34, TSEN54, TSFM, TSHB, TSHR, TSPAN7, TTBK2, TTC19, TTC21B, TTC8, TTI2, TTN, TTPA, TTR, TUBA1A, TUBA4A, TUBA8, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TUBGCP4, TUBGCP6, TUFM, TUSC3, TWIST1, TWNK, TYMP, TYR, TYROBP, UBA1, UBA5, UBAP1, UBE2A, UBE3A, UBE3B, UBQLN2, UBR1, UBTF, UCHL1, UFM1, UGP2, UMPS, UNC80, UNG, UPB1, UPF3B, UQCC2, UQCRB, UQCRC2, UQCRQ, UROC1, USH2A, USP8, USP9X, USP9Y, VAMP1, VAMP2, VANGL1, VAPB, VARS1, VARS2, VCP, VDR, VHL, VIPAS39, VLDLR, VMA21, VPS11, VPS13A, VPS13B, VPS13C, VPS13D, VPS33B, VPS35, VPS37A, VPS53, VRK1, WAC, WARS2, WASF1, WASHC4, WASHC5, WDFY3, WDR26, WDR37, WDR45, WDR45B, WDR62, WDR73, WDR81, WFS1, WNK1, WNT1, WNT5A, WNT7A, WWOX, XK, XPNPEP3, XPR1, YAP1, YARS1, YARS2, YWHAE, YWHAG, YY1, ZBTB16, ZBTB18, ZBTB20, ZBTB24, ZC3H14, ZC4H2, ZDHHC9, ZEB2, ZFYVE26, ZFYVE27, ZIC1, ZIC2, ZIC3, ZMYND11, ZNF142, ZNF292, ZNF335, ZNF41, ZNF423, ZNF699, ZNF711, ZNF81.
Se analizan 441 genes vinculados a problemas del sistema inmune:
ACD, ACP5, ACTB, ADA, ADA2, ADAM17, ADAR, AICDA, AIRE, AK2, AP1S3, AP3B1, AP3D1, APOL1, ARPC1B, ATM, ATP6AP1, B2M, BACH2, BCL10, BCL11B, BLM, BLNK, BRCA1, BRCA2, BRIP1, BTK, C1QA, C1QB, C1QC, C1R, C1S, C2, C3, C5, C6, C7, C8A, C8B, C8G, C9, CARD11, CARD14, CARD9, CARMIL2, CASP10, CASP8, CCBE1, CCDC103, CCDC39, CCDC40, CCDC65, CCNO, CD19, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD46, CD55, CD59, CD70, CD79A, CD79B, CD81, CD8A, CDC42, CDCA7, CEBPE, CFAP298, CFAP300, CFB, CFD, CFH, CFHR1, CFI, CFP, CFTR, CHD7, CIB1, CIITA, CLCN7, CLPB, COG6, COPA, CORO1A, CR2, CSF2RB, CSF3R, CTC1, CTLA4, CTPS1, CTSC, CXCR2, CXCR4, CYBA, CYBB, CYBC1, DBR1, DCLRE1B, DCLRE1C, DEF6, DIAPH1, DKC1, DNAAF1, DNAAF11, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAAF6, DNAH11, DNAH5, DNAH9, DNAI1, DNAI2, DNAJB13, DNAJC21, DNAL1, DNASE1L3, DNASE2, DNMT3B, DOCK2, DOCK8, DRC1, DSG1, EFL1, ELANE, EPG5, ERBIN, ERCC4, ERCC6L2, EXTL3, F12, FAAP24, FADD, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCI, FANCL, FANCM, FAS, FASLG, FAT4, FCGR3A, FCHO1, FCN3, FERMT1, FERMT3, FNIP1, FOXN1, FOXP3, FPR1, G6PC3, G6PD, GAS2L2, GAS8, GATA1, GATA2, GFI1, GINS1, GUCY2C, HAX1, HELLS, HMOX1, HYDIN, HYOU1, ICOS, IFIH1, IFNAR1, IFNAR2, IFNGR1, IFNGR2, IGHM, IGLL1, IKBKB, IKZF1, IL10, IL10RA, IL10RB, IL12B, IL12RB1, IL12RB2, IL17F, IL17RA, IL17RC, IL18BP, IL1RN, IL21, IL21R, IL23R, IL2RA, IL2RB, IL2RG, IL36RN, IL6R, IL6ST, IL7R, INO80, IRAK1, IRAK4, IRF2BP2, IRF3, IRF4, IRF7, IRF8, IRF9, ISG15, ITCH, ITGB2, ITK, JAGN1, JAK1, JAK3, KDM6A, KMT2A, KMT2D, KRAS, LAMTOR2, LAT, LCK, LIG1, LIG4, LPIN2, LRBA, LYST, MAD2L2, MAGT1, MALT1, MAP3K14, MASP2, MCIDAS, MCM4, MECOM, MEFV, MOGS, MPO, MS4A1, MSH6, MSN, MTHFD1, MVK, MYD88, MYSM1, NBAS, NBN, NCF1, NCF2, NCF4, NCKAP1L, NCSTN, NFAT5, NFE2L2, NFKB1, NFKB2, NFKBIA, NHEJ1, NHP2, NLRC4, NLRP1, NLRP12, NLRP3, NME8, NOD2, NOP10, NRAS, NSMCE3, OAS1, ODAD1, ODAD2, ODAD3, ORAI1, OSTM1, OTULIN, PALB2, PARN, PAX1, PEPD, PGM3, PIK3CD, PIK3R1, PLCG2, PMM2, PMS2, PNP, POLA1, POLD1, POLD2, POLE, POLE2, POLR3A, POLR3C, POLR3F, POMP, PRF1, PRKCD, PRKDC, PSENEN, PSMB8, PSMG2, PSTPIP1, PTEN, PTPRC, RAB27A, RAC2, RAD51, RAD51C, RAG1, RAG2, RANBP2, RASGRP1, RBCK1, REL, RELA, RELB, RFWD3, RFX5, RFXANK, RFXAP, RHOG, RHOH, RIPK1, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, RNF168, RNF31, RNU4ATAC, RORC, RPSA, RSPH1, RSPH4A, RSPH9, RTEL1, SAMD9, SAMD9L, SAMHD1, SBDS, SEC61A1, SEMA3E, SERPING1, SH2D1A, SH3BP2, SH3KBP1, SKIV2L, SLC29A3, SLC35C1, SLC39A4, SLC39A7, SLC46A1, SLC7A7, SLX4, SMARCAL1, SMARCD2, SNX10, SP110, SPAG1, SPINK5, SPPL2A, SRP54, SRP72, STAT1, STAT2, STAT3, STAT5B, STIM1, STING1, STK36, STK4, STN1, STX11, STXBP2, TAFAZZIN, TAP1, TAP2, TAPBP, TBK1, TBX1, TCF3, TCIRG1, TCN2, TERC, TERT, TET2, TFRC, TGFB1, TGFBR1, TGFBR2, THBD, TICAM1, TINF2, TIRAP, TLR3, TLR7, TMC6, TMC8, TNFAIP3, TNFRSF11A, TNFRSF13B, TNFRSF13C, TNFRSF1A, TNFRSF4, TNFRSF9, TNFSF11, TOP2B, TP53, TPP1, TPP2, TRAF3, TREX1, TRNT1, TTC37, TTC7A, TYK2, UBE2T, UNC13D, UNC93B1, UNG, USB1, USP18, VPS45, WAS, WDR1, WIPF1, WRAP53, XIAP, XK, XRCC2, ZAP70, ZBTB24, ZMYND10, ZNF341, ZNFX1.
Se analizan 115 genes vinculados al Parkinson:
APP, ATP13A2, ATP1A3, ATP6AP2, ATP7B, C19orf12, CHCHD10, CHCHD2, CLN3, COASY, CP, CSF1R, CYP27A1, DCAF17, DCTN1, DNAJB2, DNAJC12, DNAJC13, DNAJC5, DNAJC6, EIF4G1, FBXO7, FTL, FUS, GBA, GCH1, GIGYF2, GRN, HTRA2, JAM2, KIF5A, LRP10, LRRK2, LYST, MAPT, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MTND4L, 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, MYORG, NPC1, NPC2, NUS1, PANK2, PARK7, PDE10A, PDE8B, PDGFB, PDGFRB, PINK1, PLA2G6, POLG, POLG2, PRKN, PRKRA, PSEN1, PSEN2, PTS, RAB39B, SLC20A2, SLC30A10, SLC39A14, SLC6A3, SMPD1, SNCA, SNCB, SPG11, SPR, SYNJ1, TAF1, TARDBP, TENM4, TH, TMEM230, TWNK, UCHL1, VPS13A, VPS13C, VPS35, WDR45, XPR1, ZFYVE26.
Se analizan 783 genes vinculados a epilepsias:
AARS1, AARS2, ABAT, ABCC8, ABCD1, ABCD3, ACAD9, ACADM, ACADS, ACADVL, ACOX1, ACTL6B, ACY1, ADA, ADAM22, ADAMTS10, ADAMTSL2, ADAR, ADGRG1, ADSL, AFF3, AFG3L2, AGA, AGK, AGPS, AIFM1, AIMP1, AIMP2, ALDH3A2, ALDH5A1, ALDH7A1, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ALPL, AMPD2, AMT, ANK3, ANTXR2, AP2M1, AP3B1, AP3B2, AP4B1, AP4E1, AP4M1, AP4S1, APP, APTX, ARG1, ARHGAP31, ARHGEF9, ARSA, ARSB, ARV1, ARX, ASAH1, ASL, ASNS, ASPA, ASS1, ASXL1, ATM, ATP13A2, ATP1A2, ATP6AP1, ATP6V0A2, ATP6V1A, ATP7A, ATP7B, ATPAF2, ATRX, AUH, B3GALNT2, B3GLCT, B4GALT1, BCAP31, BCKDHA, BCKDHB, BCS1L, BEST1, BOLA3, BRAT1, BTD, C12orf57, C19orf12, CA5A, CACNA1A, CACNA1E, CACNA1H, CACNA2D2, CACNB4, CARS2, CASK, CAV1, CBS, CCDC115, CCDC88A, CDKL5, CERS1, CHD2, CHMP2B, CHRNA2, CHRNA4, CHRNA7, CHRNB2, CIC, CLCN2, CLCN4, CLDN16, CLDN19, CLN3, CLN5, CLN6, CLN8, CLP1, CLPP, CLTC, CNNM2, CNPY3, CNTNAP1, CNTNAP2, COA7, COA8, COASY, COG1, COG4, COG5, COG6, COG7, COG8, COL11A2, COL2A1, COL4A1, COL4A2, COLGALT1, COQ2, COQ8A, COQ9, COX10, COX15, COX20, COX6B1, CP, CPA6, CPLX1, CPS1, CPT1A, CPT2, CSF1R, CSNK2B, CSTB, CTC1, CTNNA2, CTNS, CTSA, CTSC, CTSD, CTSF, CTSK, CYFIP2, CYP27A1, CYP2U1, CYP7B1, D2HGDH, DAG1, DARS1, DARS2, DBT, DCAF17, DCX, DEAF1, DEGS1, DENND5A, DEPDC5, DGUOK, DHCR7, DHDDS, DHFR, DHX30, DIAPH1, DKC1, DLAT, DLD, DLL3, DNAJC5, DNM1, DNM1L, DOCK6, DOCK7, DOLK, DPAGT1, DPM1, DPM2, DPM3, DPYD, DPYS, DYM, DYRK1A, EARS2, ECHS1, EEF1A2, EFHC1, EGF, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF3F, EMC10, EML1, EPG5, EPM2A, EPRS1, ERCC6, ERCC8, ETFA, ETFB, ETFDH, ETHE1, F2, F5, FA2H, FAH, FAM126A, FARS2, FARSB, FASTKD2, FBXL4, FDX2, FGF12, FH, FHL1, FIG4, FKRP, FLVCR2, FOLR1, FOXG1, FOXRED1, FRRS1L, FTL, FUCA1, FUT8, FXYD2, GAA, GABBR2, GABRA1, GABRA2, GABRB1, GABRB2, GABRB3, GABRD, GABRG2, GAD1, GALC, GALNS, GALT, GAMT, GAN, GBA, GBE1, GCDH, GCH1, GFAP, GFER, GFM1, GFM2, GFPT1, GJA1, GJB1, GJC2, GLA, GLB1, GLDC, GLUD1, GLUL, GM2A, GMPPA, GNAO1, GNAQ, GNB5, GNE, GNPAT, GNPTAB, GNPTG, GNS, GOSR2, GOT2, GPAA1, GPC3, GRIA2, GRIN1, GRIN2A, GRIN2B, GRIN2D, GRN, GTPBP2, GTPBP3, GUF1, GUSB, HACE1, HADHA, HADHB, HCFC1, HCN1, HEPACAM, HEXA, HEXB, HGSNAT, HIBCH, HIKESHI, HLCS, HMGCL, HMGCS2, HNRNPR, HNRNPU, HRAS, HSD17B4, HSPD1, HTRA1, IARS2, IBA57, IDS, IDUA, IER3IP1, IFIH1, IQSEC2, ISCA2, ITPA, IVD, JAG1, JAM3, KAT8, KCNA1, KCNA2, KCNB1, KCNC1, KCNH1, KCNJ10, KCNK4, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCNT2, KCTD3, KCTD7, KIAA1109, KIF2A, KIF5A, KMT2E, L2HGDH, LAMA2, LAMB1, LAMP2, LARGE1, LAT, LDB3, LGI1, LIAS, LIPA, LIPT1, LMNB1, LRPPRC, LYRM7, LYST, MAF, MAGT1, MAN1B1, MAN2B1, MANBA, MAP2K1, MAP2K2, MARS2, MBD5, MCCC1, MCCC2, MCOLN1, MDH2, MECP2, MECR, MED17, MEF2C, MFF, MFN2, MFSD8, MGAT2, MGME1, MLC1, MLPH, MMAA, MMAB, MMACHC, MMADHC, MMUT, MOCS1, MOCS2, MOGS, MPDU1, MPI, MPV17, MRPS22, 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, MTFMT, MTHFR, MTHFS, MTOR, MTR, MTRFR, MYO5A, MYOT, NAGA, NAGLU, NAGS, NARS2, NAXD, NAXE, NBAS, NDE1, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB3, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NECAP1, NEDD4L, NEU1, NEUROD2, NEXMIF, NF1, NFE2L2, NFU1, NGLY1, NHLRC1, NOTCH1, NOTCH3, NPC1, NPC2, NPR2, NPRL2, NPRL3, NRXN1, NSD2, NUBPL, NUS1, OAT, OCLN, OCRL, OPA1, OPA3, OSGEP, OTC, OTUD6B, P4HTM, PACS2, PAFAH1B1, PAH, PAK1, PANK2, PARS2, PC, PCCA, PCCB, PCDH12, PCDH19, PCYT2, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PDYN, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGAP1, PGK1, PGM1, PHACTR1, PHGDH, PHYH, PIGA, PIGB, PIGH, PIGO, PIGP, PIGQ, PIGS, PIGT, PIGU, PIGV, PIGW, PLA2G6, PLAA, PLCB1, PLCG2, PLEKHG2, PLK1, PLP1, PMM2, PMP22, PMPCB, PNKP, PNPO, PNPT1, POLG, POLG2, POLR1C, POLR3A, POLR3B, POMK, POMT1, PPP2CA, PPP2R1A, PPP3CA, PPT1, PRF1, PRICKLE1, PRICKLE2, PRMT7, PRODH, PRPS1, PRRT2, PSAP, PSEN1, PTEN, PTPN23, PTS, PUM1, PURA, PYCR2, QARS1, QDPR, RAB11A, RAB11B, RAB27A, RAI1, RALA, RALGAPA1, RARS1, RARS2, RELN, RFT1, RHOBTB2, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF113A, RNF13, RNF216, ROGDI, RORA, RORB, RPIA, RRM2B, RTN4IP1, SAMHD1, SCARB2, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SCN9A, SCO1, SCO2, SDHA, SDHAF1, SDHB, SDHD, SEC23B, SELENOI, SEMA6B, SEPSECS, SERAC1, SERPINI1, SETD1A, SGCE, SGSH, SIK1, SLC12A3, SLC12A5, SLC13A3, SLC13A5, SLC16A2, SLC17A5, SLC19A3, SLC1A2, SLC1A4, SLC22A5, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A20, SLC25A22, SLC25A3, SLC25A4, SLC2A1, SLC33A1, SLC35A1, SLC35A2, SLC35C1, SLC39A8, SLC6A1, SLC6A8, SLC7A7, SLC9A6, SMC1A, SMPD1, SNIP1, SNTA1, SNX27, SON, SOX10, SPART, SPATA5, SPG11, SPG7, SPTAN1, SRD5A3, SSR4, ST3GAL3, ST3GAL5, STAMBP, STAT1, STT3A, STX1B, STXBP1, SUCLA2, SUCLG1, SUMF1, SUOX, SURF1, SYN1, SYNE1, SYNGAP1, SYNJ1, SZT2, TACO1, TBC1D24, TBCD, TBCE, TBCK, TCF4, TDP2, TGFB1, TIMM50, TIMM8A, TINF2, TK2, TMEM106B, TMEM126A, TMEM165, TMEM199, TMEM70, TMX2, TNK2, TPK1, TPP1, TRAK1, TRAPPC4, TRAPPC9, TREM2, TREX1, TRIM8, TRPM6, TRPV4, TSC1, TSC2, TSEN54, TSFM, TTC19, TUBA1A, TUBB2A, TUBB2B, TUBB4A, TUBG1, TUFM, TUSC3, TWNK, TYMP, TYROBP, UBE2A, UBE3A, UFM1, UGP2, UMPS, UPB1, UQCRQ, VAMP2, VARS1, VARS2, VCP, VPS11, WARS2, WASF1, WDR37, WDR45, WDR45B, WDR73, WFS1, WWOX, YWHAG, ZEB2, ZFYVE26, ZNF142, ZNF335.
También se realiza el análisis de la expansión de repeticiones del gen CSTB.
Se analizan 276 genes vinculados a problemas de fertilidad:
AKR1C4, AMH, AMHR2, ANOS1, AR, ARL13B, ARL6, ARX, ATP6V0A4, ATRX, AURKC, B3GLCT, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCOR, BMP15, BMP4, BNC2, CATSPER1, CC2D2A, CCDC103, CCDC28B, CCDC39, CCDC40, CDKN1C, CEP164, CEP290, CEP41, CFAP298, CFAP300, CFAP418, CFTR, CHD4, CHD7, CREBBP, CUL4B, CUL7, CYB5A, CYP11A1, CYP11B1, CYP17A1, CYP19A1, CYP21A2, DAZ2, DHCR24, DHCR7, DHH, DMRT1, DNAAF1, DNAAF11, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAAF6, DNAH11, DNAH5, DNAH9, DNAI1, DNAI2, DNAL1, DUSP6, DYNC2H1, DYNC2I1, EFNB1, ENPP1, EPG5, ERAL1, ESCO2, EVC, EVC2, FAT4, FBXL4, FEZF1, FGF10, FGF17, FGF8, FGFR1, FGFR2, FGFR3, FIG4, FLNA, FLRT3, FMR1, FOXJ1, FOXL2, FRAS1, FREM2, FSHB, FSHR, GAS8, GATA4, GLI3, GNRH1, GNRHR, GPC3, GRIP1, HBA1, HCCS, HESX1, HEXA, HFE, HNF1B, HOXA13, HS6ST1, HSD17B3, HSD17B4, HSD3B2, HUWE1, IFT172, IFT27, IL17RD, INPP5E, INSL3, IRF6, KHDC3L, KIF7, KISS1, KISS1R, LEP, LEPR, LHB, LHCGR, LHX3, LHX4, LMNA, LRRC56, LZTFL1, MAMLD1, MAP3K1, MCM9, MED12, MID1, MKKS, MKS1, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MTND4L, 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, MTTL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, MYO7A, MYRF, NEK1, NEK10, NME8, NPHP1, NPHP3, NR0B1, NR0B2, NR3C1, NR5A1, NSMF, ODAD1, ODAD2, ODAD3, ODAD4, OFD1, OPHN1, PANX1, PATL2, PAX6, PCNT, PCSK1, PDE4D, PEX1, PHF6, PITX2, PLCZ1, PNPLA6, POLR3B, POMC, POR, POU1F1, PPARG, PROK2, PROKR2, PROM1, PROP1, PRPH2, PSMC3IP, PTDSS1, PTPN11, RBBP8, RDH5, RHO, RIPK4, RLBP1, RNF216, ROR2, RPGRIP1L, RPL10, RSPO1, SALL1, SAMD9, SDCCAG8, SEMA3A, SETBP1, SGPL1, SOS1, SOX10, SOX2, SOX3, SOX9, SPAG1, SPECC1L, SPRY4, SRY, STAR, TAC3, TACR3, TBX15, TEX11, TEX15, TLE6, TMEM67, TMEM70, TOE1, TP63, TRAF3IP1, TRAIP, TRIM32, TSPYL1, TTC12, TTC21B, TTC8, TUBB8, TWIST2, UBR1, USP9Y, WDPCP, WDR11, WDR35, WEE2, WNT4, ZMYND10, ZP1, ZP2, ZP3.
Se analizan 94 genes vinculados a problemas óseos:
ABCC6, ALPL, AMER1, ANKH, ANO5, AP2S1, ASCC1, B3GAT3, B4GALT7, BMP1, CA2,CASR, CLCN5, CLCN7, COL1A1, COL1A2, CREB3L1, CRTAP, CTSK, CYP24A1, CYP27B1, CYP2R1, DMP1, DSPP, ENPP1, FAH, FAM20C, FERMT3, FGF23, FGFR1, FGFR3, FKBP10, GALNT3, GJA1, GNA11, GNAS, GORAB, GPAA1, HPGD, HRAS, IFITM5, KRAS, LEMD3, LRP4, LRP5, MBTPS2, MESD, MTAP, NBAS, NOTCH2, NRAS, OCRL, OSTM1, P3H1, P4HB, PHEX, PLEKHM1, PLOD2, PLS3, PPIB, PTDSS1, PTH1R, SEC24D, SERPINF1, SERPINH1, SGMS2, SH3PXD2B, SLC26A2, SLC29A3, SLC34A1, SLC34A3, SLC9A3R1, SLCO2A1, SNX10, SOST, SOX9, SP7, SPARC, SQSTM1, TAPT1, TBXAS1, TCIRG1, TENT5A, TGFB1, TMEM38B, TNFRSF11A, TNFRSF11B, TNFSF11, TRIP4, TYROBP, VDR, WNT1, XYLT2, ZBTB20.
TUMORES MIELOIDES
Se analizan 35 genes vinculados a tumores mieloides:
ASXL1, ATM, CBL, CDKN2A, CEBPA, CREBBP, DNMT3A, ETV6, EZH2, FLT3, GATA2, HRAS, IDH1, IDH2, JAK2, KIT, KRAS, NF1, NOTCH1, NPM1, NRAS, PDGFRB, PHF6, PTPN11, RAD21, RUNX1, SF3B1, SMC1A, SMC3, SRSF2, STAG2, TET2, TP53, U2AF1, WT1.
COAGULACIÓN SANGUÍNEA
Se analizan 112 genes vinculados a problemas de coagulación:
ABCG5, ABCG8, ACTN1, ACVRL1, ADAMTS13, ADAMTS2, ANKRD26, ANO6, AP3B1, ARPC1B, BLOC1S3, BLOC1S6, C1R, CCM2, CD36, CD40LG, CDC42, CHST14, COL1A2, COL3A1, COL4A1, COLGALT1, CTC1, CYCS, DIAPH1, DTNBP1, EFEMP2, EFL1, ENG, ETV6, F10, F11, F12, F13A1, F13B, F2, F5, F7, F8, F9, FANCA, FCGR2C, FERMT3, FGA, FGB, FGG, FLI1, FLNA, FYB1, GATA1, GFI1B, GGCX, GNE, GP1BA, GP1BB, GP6, GP9, GUCY1A1, HOXA11, HPS1, HPS3, HPS4, HPS5, HPS6, HRG, IGFBP7, IL2RG, ITGA2B, ITGB3, JAM3, KDSR, KRIT1, LMAN1, LYST, LYZ, MCFD2, MECOM, MPL, MYH9, NBEAL2, P2RY12, PDCD10, PLA2G4A, PLAT, PLAU, PROC, PROS1, PTPN11, RBM8A, RUNX1, SBDS, SERPINC1, SERPIND1, SERPINE1, SERPINF2, SLC35A1, SLC7A7, SLFN14, SMAD4, SRC, STIM1, STN1, TBXA2R, THBD, THPO, TUBB1, VIPAS39, VKORC1, VPS33B, VWF, WAS, WIPF1.
Se realiza análisis dirigido de la inversión del intrón 1 y del intrón 22A de F8. Se debe tener en cuenta que el análisis basado en fenotipo de las variantes de VKORC1 está restringido al fenotipo de Factores de coagulación dependientes de la vitamina K tipo 2.
CÁNCER DE COLÓN, PRÓSTATA, RIÑONES, TIROIDES, MAMA, OVARIOS Y MELANOMA
Se analizan 67 genes vinculados a cáncer de colón, próstata, riñones, tiroides, mama, ovarios y melanoma:
ATM, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, DICER1, DIS3L2, EPCAM, FANCC, FH, FLCN, GALNT12, HOXB13, KIT, MC1R, MEN1, MET, MITF, MLH1, MLH3, MRE11, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NTHL1, PALB2, PMS2, POLD1, POLE, POT1, PRSS1, PTCH1, PTEN, RAD50, RAD51C, RAD51D, RECQL, RET, RNF43, RPS20, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, STK11, TP53, TSC1, TSC2, VHL, WT1, XRCC2, XRCC3.
CÁNCER DE MAMA
Se analizan 28 genes vinculados a cáncer de mama:
ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, DICER1, EPCAM, FANCC, MEN1, MLH1, MRE11, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD50, RAD51C, RAD51D, RECQL, SMARCA4, STK11, TP53, XRCC2.
ESCLEROSIS LATERAL AMIOTRÓFICA (ELA) Y DEMENCIA
Se analizan 105 genes vinculados a ELA y demencia:
ABCA7, ALS2, ANG, ANXA11, APOE, APP, ARSA, ATL1, ATP7B, ATXN2, BSCL2, C9orf72, CCNF, CHCHD10, CHMP2B, CP, CSF1R, CYLD, CYP27A1, DCTN1, ERBB4, EWSR1, FIG4, FTL, FUS, GLE1, GRN, HEXA, HNRNPA1, HNRNPA2B1, HSPD1, ITM2B, KIF5A, MAPT, MATR3, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MTND1, 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, MTTY, NEFH, NEK1, NOTCH3, NPC1, OPTN, PANK2, PFN1, PRNP, PRPH, PSEN1, PSEN2, REEP1, SETX, SIGMAR1, SLC52A3, SNCA, SOD1, SORL1, SPAST, SPG11, SQSTM1, TAF15, TARDBP, TBK1, TFG, TREM2, TUBA4A, TYROBP, UBE3A, UBQLN2, VAPB, VCP, WASHC5.
También se realiza el análisis de la expansión de repeticiones de los genes C9orf72, ATXN2, PRNP
DEMENCIA Y PARKINSON
Se analizan 60 genes vinculados a demencia y Parkinson:
ABCD1, APP, ARSA, ATP13A2, ATP1A3, ATP7B, CHMP2B, CSF1R, CYP27A1, DCTN1, DNAJC6, EIF4G1, FBXO7, FUS, GALC, GBA1, GCH1, GFAP, GLA, GRN, HEXA, HTRA2, ITM2B, LMNB1, LRRK2, MAPT, NOTCH3, NPC1, NPC2, PANK2, PARK7, PINK1, PLA2G6, PNKD, POLG, PPT1, PRKN, PRKRA, PRNP, PRRT2, PSAP, PSEN1, PSEN2, SGCE, SLC2A1, SLC6A3, SNCA, SPG11, SPR, SQSTM1, TARDBP, TH, THAP1, TOR1A, TREM2, TYROBP, UBQLN2, UCHL1, VCP, VPS35.
POR EXPANSIÓN DE REPETICIONES
Se analizan 13 genes vinculados a ataxia:
ATN1, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8OS, BEAN1, CACNA1A, FXN, NOP56, PPP2R2B, TBP.
ATAXIA/PARAPLEJIA ESPÁSTICA
Se analizan 483 genes vinculados a ataxia y paraplejia espástica:
AARS2, ABCB7, ABCD1, ABHD12, ABHD5, ACAD9, ACADVL, ACO2, ADAR, ADPRS, AFG3L2, AGK, AGTPBP1, AHI1, AIFM1, AIMP1, ALAS2, ALDH18A1, ALDH5A1, ALS2, AMACR, AMPD2, ANO10, AP1S2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, APTX, ARG1, ARL13B, ARL6, ARL6IP1, ARSA, ATCAY, ATL1, ATM, ATP13A2, ATP1A2, ATP1A3, ATP2B3, ATP2B4, ATP7B, ATP8A2, ATRX, AUH, B4GALNT1, B9D1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCKDHA, BCKDHB, BCS1L, BICD2, BLOC1S1, BOLA3, BSCL2, BTD, C19orf12, CA8, CACNA1A, CACNA1G, CACNB4, CAMTA1, CAPN1, CARS2, CASK, CC2D2A, CCDC88C, CCT5, CEP290, CEP41, CHMP1A, CLCN2, CLN5, CLN6, CLPB, CLPP, COA6, COA7, COA8, COASY, COL4A1, COL4A2, COQ2, COQ4, COQ6, COQ7, COQ8A, COQ8B, COQ9, COX10, COX15, COX20, COX6A1, COX6B1, CP, CPLANE1, CPT1C, CSPP1, CSTB, CWF19L1, CYC1, CYP27A1, CYP2U1, CYP7B1, DAB1, DARS1, DARS2, DBT, DDHD1, DDHD2, DGUOK, DHPS, DLAT, DLD, DNA2, DNAJC19, DNAJC5, DNM1L, DNMT1, DOCK3, DSTYK, EARS2, EBF3, ECHS1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELAC2, ELOVL4, ELOVL5, ENTPD1, ERLIN1, ERLIN2, ETFA, ETFB, ETFDH, ETHE1, EXOSC3, FA2H, FARS2, FASTKD2, FAT2, FBXL4, FDX2, FDXR, FGF14, FH, FLAD1, FLVCR1, FOXRED1, FTL, FXN, GAD1, GALC, GARS1, GBA, GBA2, GCDH, GCH1, GFAP, GFER, GFM1, GFM2, GJB1, GJC2, GLRX5, GOSR2, GRID2, GRM1, GSS, GTPBP3, HACE1, HARS2, HEPACAM, HEXA, HEXB, HIBCH, HMGCL, HSPD1, HTRA2, IARS2, IBA57, INPP5E, IRF2BPL, ISCA2, ISCU, ITM2B, ITPR1, KCNA1, KCNA2, KCNC3, KCND3, KCNJ10, KDM5C, KIDINS220, KIF1A, KIF1C, KIF5A, KIF7, L1CAM, LAMA1, LAMP2, LARS2, LIAS, LIPT1, LMNB1, LRPPRC, LYRM7, LYST, MAG, MARS1, MARS2, MECR, MFF, MFN2, MGME1, MICU1, MKKS, MKS1, MLC1, MOCS1, MPC1, MPV17, MRE11, MRPL3, MRPL44, MRPS16, MRPS22, MSTO1, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MTND4L, 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, MTTQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, MTFMT, MTO1, MTPAP, MTRFR, MTTP, NARS2, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB3, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NFU1, NIPA1, NKX6-2, NPC1, NPC2, NPHP1, NR2F1, NT5C2, NUBPL, OFD1, OPA1, OPA3, OPHN1, OTC, PANK2, PARS2, PAX6, PC, PCCA, PCCB, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PDYN, PET100, PEX10, PEX2, PEX7, PGAP1, PHYH, PIK3R5, PLA2G6, PLK1, PLP1, PMPCA, PNKD, PNKP, PNPLA6, PNPT1, POLG, POLG2, POLR3A, POLR3B, PRICKLE1, PRKCG, PRRT2, PUM1, QARS1, RAB3GAP2, RAP1GDS1, RARS1, RARS2, REEP1, REEP2, RMND1, RNASEH1, RNASEH2B, RNF216, RPGRIP1L, RRM2B, RTN2, RUBCN, SACS, SAMD9L, SARS2, SCN1A, SCN2A, SCO1, SCO2, SCYL1, SDHA, SDHAF1, SELENOI, SERAC1, SETX, SFXN4, SIL1, SLC16A2, SLC17A5, SLC19A2, SLC19A3, SLC1A3, SLC1A4, SLC20A2, SLC22A5, SLC25A19, SLC25A26, SLC25A3, SLC25A38, SLC25A4, SLC25A46, SLC2A1, SLC33A1, SLC52A2, SLC52A3, SLC9A6, SNX14, SPART, SPAST, SPG11, SPG21, SPG7, SPR, SPTBN2, STUB1, SUCLA2, SUCLG1, SURF1, SYNE1, TACO1, TARS2, TBC1D24, TCTN1, TCTN2, TCTN3, TDP1, TECPR2, TFG, TGM6, TIMM8A, TK2, TMEM126B, TMEM138, TMEM216, TMEM231, TMEM237, TMEM240, TMEM67, TMEM70, TPK1, TPP1, TRIM32, TRIT1, TRMT10C, TRNT1, TSEN2, TSEN34, TSEN54, TSFM, TTBK2, TTC19, TTC8, TTPA, TTR, TUBB4A, TUFM, TWNK, TYMP, UBA5, UBAP1, UBE3A, UBTF, UCHL1, UNC80, UQCC2, UQCRB, UQCRC2, UQCRQ, USP8, VAMP1, VARS2, VCP, VLDLR, VPS37A, VRK1, WASHC5, WDR45, WDR45B, WDR81, WFS1, WWOX, YARS2, ZFYVE26, ZFYVE27, ZNF423.
EN RECIÉN NACIDOS UTI
Se analizan 856 genes vinculados a problemas metabólicos en recién nacidos:
AARS1, AARS2, AASS, ABAT, ABCA12, ABCA3, ABCB11, ABCC8, ABCD1, ABCD3, ABCD4, ACAD8, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACO2, ACOX1, ACSF3, ACTA1, ACY1, ADA, ADAMTS13, ADAMTSL2, ADAR, ADK, ADNP, ADSL, AGA, AGK, AGL, AGPAT2, AGPS, AGRN, AGXT, AHCY, AICDA, AIFM1, AIMP1, AKAP9, AKR1D1, AKT2, ALAD, ALAS2, ALDH18A1, ALDH3A2, ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1, ALDOA, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG14, ALG2, ALG3, ALG6, ALG8, ALG9, ALOX12B, ALOXE3, ALPL, ALS2, AMACR, AMN, AMPD1, AMT, ANK1, ANKRD26, ANKS6, ANTXR1, ANTXR2, AP2S1, AP4B1, AP4E1, AP4M1, AP4S1, APOB, APTX, ARG1, ARL6, ARSA, ARSB, ARX, ASAH1, ASL, ASNS, ASPA, ASPM, ASS1, ATIC, ATP1A3, ATP6V0A2, ATP6V1B1, ATP7A, ATP7B, ATP8B1, ATPAF2, ATR, ATRX, AUH, B3GLCT, B4GALT1, BCAP31, BCKDHA, BCKDHB, BCKDK, BCS1L, BICD2, BIN1, BLNK, BOLA3, BRAF, BRAT1, BRCA2, BSCL2, BSND, BTD, BTK, CA12, CACNA1C, CACNB2, CALM1, CAMTA1, CASK, CASR, CAST, CAV1, CAV3, CAVIN1, CBS, CCDC103, CCDC78, CD19, CD247, CD320, CD3D, CD3E, CD3G, CD40, CD40LG, CD59, CD79A, CD79B, CD81, CD96, CDAN1, CDCA8, CDK5RAP2, CDKL5, CDKN1C, CENPJ, CEP152, CEP290, CERS3, CFAP298, CFH, CFHR3, CFL2, CFTR, CHAT, CHD7, CHKB, CHM, CHRNA1, CHRNB1, CHRND, CHRNE, CLCN1, CLCNKA, CLCNKB, CLDN16, CLN3, CLN5, CLN6, CLN8, CLPB, CNTN1, COA5, COG1, COG6, COG7, COL11A1, COL17A1, COL1A1, COL1A2, COL2A1, COL3A1, COL5A2, COL6A1, COL6A2, COL6A3, COL7A1, COLQ, COMP, COQ2, COQ8A, COQ9, CORO1A, COX10, COX15, COX20, COX6B1, CPS1, CPT1A, CPT2, CR2, CRPPA, CRTAP, CTNS, CTPS1, CTSA, CTSD, CUL4B, CXCR4, CYP11B1, CYP11B2, CYP17A1, CYP4F22, CYP7B1, D2HGDH, DBT, DCLRE1C, DDC, DDOST, DDR2, DEPDC5, DES, DGUOK, DHCR24, DHCR7, DIAPH1, DLAT, DLD, DMD, DNA2, DNAH11, DNAH5, DNAI1, DNAI2, DNAJC19, DNM2, DOCK7, DOCK8, DOK7, DOLK, DPAGT1, DPM2, DPYD, DRC1, DSP, DST, DUOX2, DUOXA2, DYSF, EDN3, EEF1A2, EGR2, EIF2AK3, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELAC2, ELANE, ENPP1, EPB42, EPCAM, ETFA, ETFB, ETFDH, ETHE1, EVC, EVC2, EXOSC3, EYA1, EYA4, F10, F11, F13A1, F2, F5, F7, F8, F9, FADD, FAH, FANCA, FANCB, FANCC, FANCD2, FANCL, FARS2, FASTKD2, FBN1, FBP1, FBXL4, FGA, FGB, FGFR2, FGFR3, FGG, FH, FIG4, FKBP14, FKRP, FKTN, FOXC1, FOXE1, FOXG1, FOXP3, FOXRED1, FRAS1, FUCA1, G6PC1, G6PD, GAA, GALC, GALE, GALK1, GALNS, GALT, GAMT, GAN, GARS1, GATA1, GATM, GBA, GBE1, GCDH, GCH1, GCK, GCSH, GDAP1, GFAP, GFM1, GFPT1, GJA1, GJB2, GJB4, GK, GLA, GLB1, GLDC, GLIS3, GLRA1, GLRB, GLUD1, GLYCTK, GMPPB, GNAS, GNE, GNMT, GNPAT, GNPTAB, GP1BA, GP1BB, GP9, GPC3, GPHN, GPSM2, GSS, GUSB, GYS2, HADH, HADHA, HADHB, HAMP, HAX1, HBA1, HBA2, HBB, HCFC1, HESX1, HEXA, HEXB, HGD, HGF, HIBCH, HLCS, HMGCL, HMGCS2, HNF1A, HNF1B, HNF4A, HPD, HPGD, HRAS, HSD17B10, HSD17B4, HSD3B2, HSD3B7, HSPA9, HSPD1, HSPG2, ICOS, IDUA, IER3IP1, IFIH1, IFT172, IGF1, IGF1R, IGHMBP2, IGLL1, IGSF1, IKBKB, IL12RB1, IL2RA, IL2RG, IL7R, INS, INSR, INVS, IRF8, IRS4, ITGA2B, ITGA6, ITGA7, ITGB3, ITGB4, IVD, IYD, JAG1, JAGN1, JAK3, JAM3, KAT6A, KAT6B, KBTBD13, KCNE1, KCNH1, KCNH2, KCNJ10, KCNJ11, KCNQ1, KCNQ2, KCNQ3, KCNT1, KCTD7, KIF1B, KLF1, KLHL40, KLHL41, KLHL7, KRAS, KRT5, LAMA2, LAMA3, LAMB3, LAMC2, LAMP2, LAMTOR2, LARS2, LAS1L, LCT, LHX3, LHX4, LIAS, LIG4, LIPA, LIPN, LIPT1, LMBRD1, LMNA, LPIN1, LRBA, LRPPRC, LRRC8A, MAGEL2, MAGT1, MALT1, MAN2B1, MANBA, MAP2K1, MAP2K2, MAT1A, MCCC1, MCCC2, MCEE, MCM4, MCPH1, MECP2, MED12, MEF2C, MEGF10, MFN2, MFSD8, MITF, MKKS, MLC1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MMUT, MOCS1, MOCS2, MPC1, MPI, MPL, MPV17, MPZ, MRPL3, MRPL44, MSMO1, MTHFR, MTM1, MTMR14, MTO1, MTR, MTRFR, MTRR, MUSK, MVK, MYCN, MYH9, NAA10, NAGA, NAGS, NALCN, NARS2, NBAS, NDUFA1, NDUFA10, NDUFA11, NDUFA2, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFV1, NDUFV2, NEB, NEU1, NEUROG3, NEXN, NFKB2, NFU1, NGF, NGLY1, NHEJ1, NIPAL4, NIPBL, NKX2-1, NKX2-5, NLRC4, NLRP3, NOTCH2, NPC1, NPC2, NPHP1, NPHP3, NR0B1, NR3C2, NRAS, NSD1, NSDHL, NUBPL, OAT, OCLN, OCRL, ODAD1, OPA3, OPHN1, ORC1, ORC4, OTC, OTX2, OXCT1, PAFAH1B1, PAH, PAX2, PAX3, PAX6, PAX8, PC, PCBD1, PCCA, PCCB, PCDH19, PCNT, PDCD10, PDE10A, PDHA1, PDHB, PDHX, PDP1, PDSS2, PDX1, PEPD, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGAP1, PGM1, PHGDH, PHKG2, PHOX2B, PIGA, PIGN, PIGT, PIGV, PIK3CD, PKD2, PKHD1, PKLR, PLCB4, PLEC, PLOD1, PLP1, PMM2, PMP22, PNKP, PNP, PNPLA1, PNPO, PNPT1, POGZ, POLG, POLG2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POU1F1, PPT1, PRDM16, PRKAG2, PRKAR1A, PROC, PRODH, PROP1, PROS1, PRPS1, PRRT2, PSAP, PSAT1, PSPH, PTPN11, PTPRC, PTRH2, PTS, PURA, QDPR, RAB18, RAB3GAP1, RAB3GAP2, RAC2, RAF1, RAG1, RAG2, RANBP2, RAPSN, RARS2, RB1, RBBP8, RBM8A, RET, RFT1, RFX5, RFX6, RIT1, RMND1, RNASEH2C, RNASET2, RORC, RPS19, RRM2B, RXYLT1, RYR1, SALL1, SATB2, SBDS, SCN1A, SCN2A, SCN4A, SCN5A, SCN9A, SCO1, SCO2, SDHA, SDHAF1, SECISBP2, SELENON, SERAC1, SERPINC1, SERPING1, SFTPB, SFTPC, SHOC2, SIL1, SIX3, SIX5, SKI, SLC12A6, SLC16A1, SLC16A2, SLC17A5, SLC19A2, SLC19A3, SLC22A5, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A3, SLC26A2, SLC26A3, SLC26A4, SLC2A1, SLC30A2, SLC33A1, SLC3A1, SLC4A1, SLC52A1, SLC52A3, SLC5A1, SLC5A5, SLC6A1, SLC6A3, SLC6A5, SLC7A7, SLC7A9, SLCO1B1, SLCO1B3, SMPD1, SNAI2, SNX10, SOS1, SOX10, SOX2, SOX9, SPAST, SPEG, SPINK5, SPINT2, SPR, SPRED1, SPTA1, SPTAN1, SPTB, SRD5A3, ST3GAL3, ST3GAL5, STAR, STAT1, STAT3, STIL, STIM1, STING1, STS, STT3B, STXBP1, SUCLA2, SUCLG1, SUMF1, SUOX, SYNE1, TACO1, TAFAZZIN, TAT, TBC1D24, TBCE, TBL1X, TBX19, TBX5, TCAP, TCN2, TFR2, TG, TGM1, TH, THRA, THRB, TJP2, TMCO1, TMEM165, TMEM70, TNFRSF13B, TNFRSF13C, TNFSF4, TNNT1, TP63, TPM2, TPM3, TPO, TPP1, TRH, TRHR, TRIP11, TRMU, TRPV4, TSC1, TSC2, TSFM, TSHB, TSHR, TSPYL1, TTC7A, TTN, TUBA8, TUBB1, TUBB2A, TWNK, UBA1, UBR1, UGT1A1, UMPS, UNG, UPB1, UQCRC2, UROD, UROS, WAS, WDPCP, WDR62, WDR73, WFS1, WNK1, WT1, ZAP70, ZEB2, ZFP57, ZNF423.
ERRORES CONGÉNITOS
Se analizan 744 genes vinculados a errores congénitos del metabolismo:
AARS2, ABCA1, ABCB4, ABCC2, ABCC8, ABCD1, ABCD4, ABCG5, ABCG8, ACAD8, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACOX1, ACSF3, ACY1, ADA, ADAMTS10, ADAMTSL2, ADAR, ADGRG1, ADK, ADSL, AFG3L2, AGA, AGL, AGPAT2, AGPS, AGXT, AHCY, AIFM1, AIMP1, AIMP2, AKT2, AKT3, ALAD, ALAS2, ALDH18A1, ALDH3A2, ALDH4A1, ALDH5A1, ALDH7A1, ALDOA, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ALPL, ALS2, AMN, AMPD2, AMT, ANK1, ANTXR2, AP3B1, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, APOA2, APOA5, APOB, APOC2, APOE, APP, APPL1, APTX, AQP2, ARG1, ARL6IP1, ARSA, ARSB, ASAH1, ASL, ASPA, ASS1, ATM, ATP13A2, ATP6V0A2, ATP7A, ATP7B, ATPAF2, ATRX, AUH, AVP, AVPR2, B3GALNT2, B4GALNT1, B4GALT1, BCAP31, BCKDHA, BCKDHB, BCS1L, BEST1, BICD2, BLK, BMP6, BOLA3, BRAT1, BSCL2, BTD, C19orf12, CA5A, CACNA1D, CAPN1, CASP10, CASP8, CAV1, CAVIN1, CBLIF, CBS, CCT5, CD320, CEL, CERS1, CETP, CISD2, CLCN2, CLN3, CLN5, CLN6, CLN8, CLPB, CLPP, COA7, COA8, COASY, COG1, COG4, COG5, COG6, COG7, COG8, COL11A2, COL2A1, COL4A1, COL4A2, COLGALT1, COQ2, COQ8A, COQ9, COX10, COX15, COX20, COX6B1, CP, CPOX, CPS1, CPT1A, CPT1C, CPT2, CSF1R, CTC1, CTH, CTLA4, CTNS, CTSA, CTSC, CTSD, CTSF, CTSK, CUBN, CYP11B1, CYP17A1, CYP19A1, CYP27A1, CYP2U1, CYP7B1, D2HGDH, DAG1, DARS1, DARS2, DBT, DCAF17, DDC, DDHD1, DDHD2, DDOST, DGUOK, DHCR7, DHDDS, DIABLO, DKC1, DLAT, DLD, DLL3, DNAJC5, DNM1L, DOLK, DPM1, DPM2, DPM3, DPYD, DSTYK, DYM, EARS2, ECHS1, EIF2AK3, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF2S3, ENO3, ENPP1, ENTPD1, EPB42, EPHX2, EPM2A, EPRS1, ERCC6, ERCC8, ERLIN1, ERLIN2, ETFA, ETFB, ETFDH, ETHE1, EXOSC3, F2, F5, FA2H, FADD, FAH, FAM126A, FARS2, FARSB, FAS, FASLG, FASTKD2, FBN1, FBP1, FBXL4, FDX2, FECH, FGF23, FH, FHL1, FLAD1, FOLR1, FOXA2, FOXP3, FOXRED1, FTL, FUCA1, G6PC1, G6PD, GAA, GABRB2, GALC, GALE, GALK1, GALNS, GALT, GAMT, GAN, GATA4, GATA6, GATM, GBA, GBA2, GBE1, GCDH, GCK, GCSH, GFAP, GFER, GFM1, GFM2, GFPT1, GHR, GJA1, GJB1, GJC2, GK, GLA, GLB1, GLDC, GLIS3, GLRX5, GLUD1, GLUL, GM2A, GMPPA, GNE, GNMT, GNPAT, GNPTAB, GNPTG, GNS, GOSR2, GPC3, GRN, GTPBP2, GTPBP3, GUSB, GYG1, GYS1, GYS2, HACE1, HADH, HADHA, HADHB, HAMP, HCFC1, HEPACAM, HEXA, HEXB, HFE, HGD, HGSNAT, HIBCH, HIKESHI, HJV, HK1, HLCS, HMBS, HMGCL, HMGCS2, HNF1A, HNF1B, HNF4A, HPD, HPRT1, HRAS, HSD17B10, HSD17B4, HSD3B2, HSPD1, HTRA1, HYAL1, IARS2, IBA57, IDS, IDUA, IER3IP1, IFIH1, IL2RA, INS, INSR, ISCA2, ITIH4, ITK, IVD, JAG1, JAM3, KCNC1, KCNJ10, KCNJ11, KCNT1, KCTD7, KDM6A, KHK, KIDINS220, KIF1A, KIF1C, KIF5A, KLF11, KMT2D, KRAS, L1CAM, L2HGDH, LAMA2, LAMB1, LAMP2, LARGE1, LAT, LCAT, LDB3, LDHA, LDLR, LDLRAP1, LIAS, LIPA, LIPC, LIPE, LIPI, LIPT1, LIPT2, LMBRD1, LMNA, LMNB1, LPIN1, LPL, LRBA, LRPPRC, LYRM7, LYST, MAG, MAGT1, MAN1B1, MAN2B1, MANBA, MARS1, MARS2, MCCC1, MCCC2, MCEE, MCOLN1, MECR, MFSD8, MGAT2, MGME1, MLC1, MLPH, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MMUT, MOCS1, MOCS2, MOGS, MPDU1, MPI, MPV17, MRPL44, MRPS22, 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, MTTE, 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, MTFMT, MTHFR, MTPAP, MTR, MTRFR, MTRR, MYO5A, MYOT, NAGA, NAGLU, NAGS, NARS2, NAXD, NAXE, NBAS, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF4, NDUFAF5, NDUFAF6, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEU1, NEUROD1, NEUROG3, NFE2L2, NFU1, NGLY1, NHLRC1, NIPA1, NKX2-2, NKX6-2, NOTCH3, NPC1, NPC2, NPR2, NRAS, NT5C2, NUBPL, OAT, OCLN, OCRL, OPA3, OSGEP, OTC, OXCT1, PAH, PANK2, PAX4, PC, PCCA, PCCB, PCK1, PCSK9, PCYT2, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PDX1, PEPD, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PGAM2, PGAP1, PGK1, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PHYH, PIK3R1, PKLR, PLA2G6, PLAA, PLCG2, PLIN1, PLP1, PLPBP, PMM2, PMPCB, PNPLA6, PNPO, PNPT1, POLG, POLR1C, POLR3A, POLR3B, POR, PPARG, PPOX, PPP1R17, PPT1, PRF1, PRICKLE1, PRKAG2, PRKCD, PRODH, PSAP, PSEN1, PTF1A, PTS, PYCR2, PYGL, PYGM, QDPR, RAB11B, RAB27A, RAB3GAP2, RAI1, RARS1, RARS2, RBCK1, REEP1, REEP2, RFT1, RFX6, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF216, RPIA, RRM2B, RTN2, SACS, SAMHD1, SCARB2, SCO1, SCO2, SDHA, SDHAF1, SDHB, SDHD, SERAC1, SERPINI1, SGSH, SI, SLC13A3, SLC16A1, SLC16A2, SLC17A5, SLC19A2, SLC19A3, SLC1A4, SLC22A5, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A20, SLC25A4, SLC25A46, SLC2A1, SLC2A2, SLC33A1, SLC35A1, SLC35A2, SLC35C1, SLC3A1, SLC40A1, SLC4A1, SLC6A19, SLC6A8, SLC6A9, SLC7A7, SLC7A9, SLCO1B1, SLCO1B3, SMPD1, SNTA1, SOX10, SPART, SPAST, SPG11, SPG21, SPG7, SPTA1, SPTB, SRD5A3, SSR4, STAT1, STAT3, STT3A, STT3B, STX11, STXBP2, SUCLA2, SUCLG1, SUGCT, SUMF1, SUOX, SURF1, SYNE1, TACO1, TAFAZZIN, TAT, TBC1D24, TCF4, TCN2, TECPR2, TFG, TFR2, TGFB1, TINF2, TK2, TMEM106B, TMEM165, TMEM70, TPK1, TPP1, TREM2, TREX1, TRMT10A, TRPV4, TSFM, TTC19, TUBB4A, TUFM, TUSC3, TWNK, TYMP, TYROBP, UBAP1, UCHL1, UCP2, UFM1, UGT1A1, UMPS, UNC13D, UNC80, UQCRQ, UROD, UROS, USH1C, VAMP1, VCP, VPS11, VPS37A, WARS2, WASHC5, WDR45, WDR45B, WFS1, ZFP57, ZFYVE26, ZFYVE27.
DIABETES Y OBESIDAD
Se analizan 265 genes vinculados a diabetes y obesidad:
ABCA1, ABCC8, ABCG5, ABCG8, ACAT1, ACSF3, ADCY3, AFF4, AGL, AGRP, AIP, AIRE, AKT2, ALDOA, ALDOB, ALG1, ALG11, ALG12, ALG3, ALG6, ALG8, ALG9, ANGPTL3, APOA1, APOA5, APOB, APOC2, APOC3, APOE, APPL1, AQP2, ARL13B, ARL6, ARMC5, ATP6V0A2, AVP, AVPR2, B4GALT1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BDNF, BLK, CANT1, CC2D2A, CCDC28B, CEL, CEP164, CEP19, CEP290, CETP, CFAP418, CHD2, CISD2, CNOT1, COG1, COG4, COG5, COG6, COG7, COG8, CP, CPE, CREBBP, CUL4B, CYP27A1, DCAF17, DNAJC3, DOLK, DPM1, DPM2, DPM3, DYRK1B, EHMT1, EIF2AK3, EIF2B1, EIF2S3, ENO3, ENPP1, EPM2A, FBP1, FOXP3, G6PC1, GAA, GATA6, GBE1, GCK, GCKR, GH1, GHR, GHRHR, GHRL, GLI3, GLIS3, GLUD1, GMPPA, GNAS, GNE, GPC3, GPD1, GPIHBP1, GYS1, GYS2, H6PD, HADH, HEXA, HMGCL, HMGCS2, HNF1A, HNF1B, HNF4A, HSD11B1, IER3IP1, IFT172, IFT27, IGF1R, INPP5E, INS, INSR, ITCH, KCNJ11, KIDINS220, KIF7, KLF11, KMT2C, KSR2, LAMP2, LARGE1, LAS1L, LDHA, LDLR, LDLRAP1, LEP, LEPR, LIPA, LIPC, LIPE, LMF1, LMNA, LPL, LZTFL1, MAGEL2, MAN1B1, MC3R, MC4R, MCHR1, MEGF8, MGAT2, MKKS, MKRN3, MKS1, MOGS, MPDU1, MPI, MPV17, MRAP2, MTNR1B, MTTP, MYO5A, MYO7A, MYT1L, NDN, NEUROD1, NEUROG3, NGLY1, NHLRC1, NKX2-2, NPHP1, NPHP3, NR0B2, NSD1, NTRK2, OFD1, OXCT1, PAX4, PAX6, PC, PCBD1, PCK1, PCNT, PCSK1, PCSK9, PDE11A, PDE4D, PDX1, PFKM, PGAM2, PGK1, PGM1, PHF6, PHIP, PHKA1, PHKA2, PHKB, PHKG2, PIK3R1, PMM2, PNPLA6, POLD1, POMC, PPARG, PPP1R15B, PRKAG2, PRKAR1A, PRMT7, PROM1, PRPH2, PTEN, PTF1A, PYGL, PYGM, RAB23, RAI1, RBCK1, RDH5, RFT1, RFX6, RHO, RLBP1, RPGRIP1L, RPS6KA3, SDCCAG8, SETD2, SH2B1, SIM1, SLC16A1, SLC19A2, SLC29A3, SLC2A2, SLC35A1, SLC35A2, SLC35C1, SNRPN, SPG11, SRD5A3, SSR4, STAT1, STAT3, TBX3, THOC2, THRA, TMEM165, TMEM67, TRAF3IP1, TRAPPC9, TRIM32, TRMT10A, TTC21B, TTC8, TUSC3, UCP2, UCP3, VPS13B, WFS1, XRCC4, XYLT1, ZBTB20, ZFP57, ZMPSTE24, ZNF711.
También se realiza MLPA para el locus 15q11.
Se analizan 820 genes vinculados a discapacidad intelectual:
ABAT, ABCA7, ABCD1, ACE, ACHE, ACSL4, ACTB, ACTG1, ACTN4, ADA, ADAR, ADAT3, ADCY5, ADGRG1, ADK, ADNP, ADSL, AFF2, AHDC1, AHI1, AIMP1, AKT3, ALDH18A1, ALDH5A1, ALDH7A1, ALG11, ALG13, ALX4, AMMECR1, AMPD1, AMPD2, AMT, ANK2, ANK3, ANKLE2, ANKRD11, AP1S1, AP1S2, AP2M1, AP3B1, AP4B1, AP4M1, ARFGEF2, ARHGEF10, ARHGEF6, ARHGEF9, ARID1A, ARID1B, ARID2, ARL13B, ARX, ASAH1, ASCL1, ASH1L, ASPM, ASTN2, ASXL1, ASXL3, ATP13A2, ATP1A1, ATP1A3, ATP6AP2, ATP6V0A2, ATP7A, ATP8A2, ATR, ATRX, AUTS2, B3GALNT2, B4GAT1, B9D1, B9D2, BBS4, BCAP31, BCKDK, BCL11A, BCOR, BCS1L, BDNF, BLOC1S1, BLOC1S3, BLOC1S6, BRAF, BRCA2, BRWD3, C12orf4, C12orf57, C19orf12, CA2, CA8, CACNA1A, CACNA1C, CACNA1D, CACNA1E, CACNA1F, CACNA1G, CACNA1H, CACNB2, CAMK2A, CAMK2B, CAMK2G, CAMTA1, CARD11, CASK, CBS, CC2D1A, CC2D2A, CCDC22, CCDC40, CCDC88C, CDH11, CDH15, CDK5RAP2, CDKL5, CDON, CENPF, CENPJ, CEP135, CEP152, CEP290, CEP41, CEP63, CERT1, CHAMP1, CHD1, CHD2, CHD3, CHD7, CHD8, CHL1, CHMP1A, CIB2, CIC, CIT, CLCN4, CLN8, CLP1, CLTC, CNGB3, CNKSR2, CNTN4, CNTNAP2, COASY, COL4A1, CPLANE1, CPT2, CRADD, CRBN, CREBBP, CRIPT, CRPPA, CSMD1, CSPP1, CTC1, CTCF, CTNNA3, CTNNB1, CUL3, CUL4B, CUL7, CUX1, CUX2, CX3CR1, CYB5R3, CYP11B1, CYP27A1, DARS1, DARS2, DCAF17, DCX, DDC, DDX3X, DEAF1, DHCR7, DIP2B, DKC1, DLG3, DLG4, DLGAP2, DLX3, DMXL2, DNM1, DNMT3A, DOCK8, DPF2, DPP6, DPYD, DRD3, DST, DTNBP1, DVL3, DYM, DYNC1H1, DYRK1A, EBF3, EDC3, EDN3, EDNRB, EEF1A2, EFTUD2, EHMT1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF2S3, ELOVL4, ELP2, EMC10, EMX2, EP300, EPB41L1, ETFB, EXOC6B, EXOSC3, EXOSC9, EXT1, EZH2, FAM126A, FAN1, FANCB, FBN1, FBXO11, FGA, FGD1, FGFR2, FGFR3, FH, FKRP, FKTN, FLNA, FLVCR1, FMN2, FMR1, FOLR1, FOXC1, FOXG1, FOXL2, FOXP1, FOXP2, FRMPD4, FTL, FTO, FTSJ1, G6PD, GABBR2, GABRA5, GABRB3, GAD1, GAMT, GATAD2B, GATM, GCK, GDI1, GDNF, GFAP, GIGYF2, GJC2, GK, GLI2, GLRB, GMPPA, GMPPB, GNAO1, GNAS, GNB1, GPC3, GPC4, GPC6, GPHN, GPT2, GPX1, GRIA1, GRIA3, GRIA4, GRID2, GRIK2, GRIN1, GRIN2A, GRIN2B, GRIP1, HBB, HCCS, HCFC1, HCN1, HDAC4, HDAC8, HECW2, HEPACAM, HERC2, HIVEP2, HNMT, HNRNPH2, HNRNPU, HOXA1, HPRT1, HPS1, HPS4, HPS5, HPS6, HRAS, HSD11B1, HSD17B10, HSPD1, HUWE1, HYDIN, IDS, IER3IP1, IFIH1, IGBP1, IGF1, IGF1R, IL1RAPL1, IMPA1, INPP5E, INVS, IQSEC2, IRF2BPL, IRX5, ITGA7, ITGB3, ITPR1, JAG1, KANK1, KANSL1, KAT6A, KAT6B, KATNB1, KCNB1, KCNC1, KCNC3, KCND3, KCNJ10, KCNK9, KCNMA1, KCNQ2, KCNQ3, KCNQ5, KDM4B, KDM5B, KDM5C, KDM6A, KIF11, KIF14, KIF1A, KIF5C, KIF7, KIFBP, KIRREL3, KMT2A, KMT2C, KMT2D, KMT5B, KNL1, KPTN, KRAS, L1CAM, LAMA1, LAMA2, LAMB1, LAMC3, LAMP2, LARGE1, LEP, LINS1, LMAN2L, LMX1B, LRBA, LRP1, LRP2, LZTR1, MACF1, MAGEL2, MAGT1, MAN1B1, MAOA, MBD5, MBOAT7, MBTPS2, MCCC2, MCM4, MCM6, MCPH1, MECP2, MECR, MED12, MED13, MED13L, MED17, MED23, MEF2C, MEGF10, MEIS2, METTL23, MFRP, MFSD2A, MGAT2, MIB1, MID1, MITF, MKKS, MKS1, MLC1, MOCS1, MPDZ, MSMO1, MSR1, 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, MTHFR, MTM1, MTOR, MTR, MTRFR, MYCN, MYO1E, MYO5A, MYO9B, MYT1L, NAA10, NAA15, NACC1, NAGA, NALCN, NBEA, NCAPD3, NDE1, NDP, NDST1, NDUFA1, NECTIN1, NEK10, NEXMIF, NF1, NFIA, NFIB, NFIX, NHEJ1, NHS, NIPA1, NIPBL, NLGN3, NLGN4X, NOTCH2, NPHP1, NPHP3, NR2F1, NR3C2, NRXN1, NSD1, NSDHL, NSMCE3, NSUN2, NTRK1, NUP133, NUS1, OCLN, OCRL, ODAD4, OFD1, OPHN1, ORC1, OTC, P4HA2, PACS1, PAFAH1B1, PAH, PAK3, PANK2, PAX3, PAX6, PBX1, PCDH15, PCDH19, PCNT, PDCD1, PDE6D, PDHA1, PER2, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGAP1, PGAP2, PGK1, PHF6, PHF8, PHIP, PIGA, PIGC, PIGG, PIGL, PIGN, PIGO, PIGV, PIK3R2, PITX1, PITX2, PLA2G6, PLCB1, PLK1, PLK4, PLN, PLP1, PNKP, POGZ, POLA1, POLR1C, POLR1D, POLR3A, POLR3B, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PON1, PORCN, POT1, PPM1D, PPOX, PPP2R1A, PPP2R5D, PPT1, PQBP1, PRICKLE1, PRKCA, PRKN, PRODH, PRPS1, PRSS12, PSMD12, PTCH1, PTCHD1, PTEN, PTPN11, PTPRC, PTS, PURA, PUS3, PXDN, PYCR1, PYCR2, QARS1, QRICH1, RAB18, RAB39B, RAB3GAP1, RAB3GAP2, RAC1, RAD21, RAI1, RAP1GDS1, RARS2, RBBP8, RBFOX1, RBM10, RELN, RERE, REST, RET, RIMS1, RNASEH2A, RNASEH2B, RNASEH2C, RNF168, ROBO2, ROGDI, ROR2, RPGRIP1L, RPL10, RPS6KA3, RTTN, RUSC2, RXYLT1, SALL1, SAMHD1, SASH1, SASS6, SATB2, SBF1, SC5D, SCN1A, SCN2A, SCN4A, SCN8A, SCN9A, SCO2, SDCCAG8, SDHA, SEPSECS, SET, SETBP1, SETD2, SETD5, SF3B1, SGCA, SHANK2, SHH, SHROOM4, SIL1, SIN3A, SIX3, SLC12A5, SLC16A2, SLC1A1, SLC25A12, SLC25A15, SLC25A19, SLC27A4, SLC2A1, SLC35A2, SLC35A3, SLC4A10, SLC4A4, SLC6A1, SLC6A17, SLC6A3, SLC6A4, SLC6A8, SLC7A7, SLC9A6, SLC9A9, SLCO1B3, SMAD4, SMARCA2, SMARCA4, SMARCB1, SMARCC2, SMARCE1, SMC1A, SMC3, SMPD1, SMS, SNAI2, SNAP25, SNAP29, SNIP1, SOBP, SOD1, SOX10, SOX11, SOX2, SOX3, SOX5, SPAST, SRCAP, SRD5A3, ST3GAL3, STAG1, STAMBP, STIL, STRA6, STXBP1, SYN1, SYN2, SYNE1, SYNGAP1, SYNJ1, SYP, TAF13, TAF2, TAF6, TAOK1, TBC1D20, TBC1D23, TBC1D24, TBCE, TBL1XR1, TBR1, TBX1, TBX3, TCF20, TCF4, TCOF1, TCTN1, TCTN2, TCTN3, TECR, TECTA, TET2, TFAP2A, TGIF1, THRA, THRB, TIMM8A, TINF2, TLK2, TMCO1, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TMLHE, TMTC3, TNIK, TOE1, TPO, TRAF7, TRAPPC9, TREX1, TRIO, TRIP12, TRMT10A, TRPC6, TRPM1, TRRAP, TSC1, TSC2, TSEN15, TSEN2, TSEN34, TSEN54, TSPAN7, TTC21B, TTI2, TTN, TUBA1A, TUBA8, TUBB2B, TUBB3, TUBB4A, TUBGCP4, TUBGCP6, TUSC3, TYR, UBE2A, UBE3A, UBE3B, UBR1, UNC80, UPF3B, UROC1, USH2A, USP9X, USP9Y, VDR, VLDLR, VPS13B, VPS53, VRK1, WAC, WASHC4, WDFY3, WDR26, WDR45, WDR62, WDR81, WNT1, WNT5A, WWOX, YWHAE, YY1, ZBTB18, ZBTB20, ZBTB24, ZC3H14, ZC4H2, ZDHHC9, ZEB2, ZFYVE26, ZIC1, ZIC2, ZIC3, ZMYND11, ZNF292, ZNF335, ZNF41, ZNF423, ZNF699, ZNF711, ZNF81.
También se realiza el análisis de la expansión de repeticiones del gen FMR1.
El panel consiste en detectar las anomalías cromosómicas fetales más comunes (Trisomía 21, Trisomía 18, Trisomía 13 y cromosomas sexuales), mediante una prueba no invasiva, es decir que únicamente se requiere sangre de la madre. Se tiene total seguridad para la madre y el feto en desarrollo en comparación con los métodos actuales de pruebas invasivas. Los resultados son altamente precisos. Se puede realizar esta prueba desde las 10 semanas de gestación.
FMR1 (SÍNDROME DE X FRÁGIL)
El Síndrome de X Frágil es una condición genética causada por alteraciones (mutaciones) en el gen FMR1 que está localizado en el cromosoma X. Las personas afectadas presentan diversos problemas en el desenvolvimiento incluyendo problemas en el aprendizaje y de la función cognitiva. Esta condición es la forma más común de incapacidad intelectual hereditaria en varones y también puede causar discapacidad intelectual significante en algunas mujeres.
El estudio consiste en detectar mutaciones y premutaciones en el gen FMR1 mediante el número de repeticiones CGG.
https://rarediseases.info.nih.gov/espanol/11879/sindrome-x-fragil
SRY (DIMORFISMO SEXUAL)
La diferenciación del sexo corresponde a la presencia de los cromosomas sexuales XX (mujeres) y XY (varones). Sin embargo, existen anomalías que inducen a una disgenesia gonadal ocasionada por la expresión o no de ciertos genes que se encuentran en los cromosomas sexuales, haciendo que un individuo sea fenotípicamente mujer pero genotípicamente sea 47XYY (Rojas, et al., 2005), o un individuo sea fenotípicamente varón, pero genotípicamente sea 46XX (Casas-Vargas, et al., 2019). El gen SRY actúa como un gen maestro que a manera de “switch” inicia la determinación del testículo desencadenando la vía de expresión de diversos genes involucrados en el proceso de la determinación sexual, por ello es considerado el factor determinante de testículo.
El estudio consiste en detectar la presencia o ausencia del gen SRY en la muestra analizada.
AMELOGENINA (DIMORFISMO SEXUAL)
Hay dos genes de amelogenina, uno en el cromosoma X y el otro en el cromosoma Y en humanos. Se estableció el mapeo del gen de la amelogenina humana en la región p22 en el cromosoma X y en la región p11 del cromosoma Y. Se ha confirmado que varios tipos de amelogénesis imperfecta ligada al cromosoma X son causados por defectos estructurales en el gen de la amelogenina en el cromosoma X.
El estudio consiste en detectar la presencia o ausencia de los dos genes de amelogenina en la muestra analizada.
FGFR1 (CRANEOSINOSTOSIS)
El síndrome de Pfeiffer es un trastorno craneofacial hereditario que se asocia con craneosinostosis primaria, hipoplasia del tercio medio facial, pulgares anchos y dedos gordos, y sindactilia de tejidos blandos de manos (generalmente segundo y tercer dígitos) y pies de gravedad variable. La mayoría de los pacientes afectados tienen pérdida auditiva conductiva asociada.
La presente prueba consiste en la identificación de la mutación puntual p.P252R (c.755C>G) en el exón 5 del gen FGFR1.
FGFR2 (CRANEOSINOSTOSIS)
El síndrome de Apert se caracteriza por la presencia de craneosinostosis multisutura, retrusión de la cara media y sindactilia de las manos con fusión de la segunda a la cuarta uña. Casi todos los individuos afectados tienen craneosinostosis coronal, y la mayoría también tienen afectación de las suturas sagital y lambdoide.
El diagnóstico del síndrome de Apert se establece en una banda con características clínicas clásicas (craneosinostosis multisubtura, retrusión de la cara media y sindactilia) y/o mediante la identificación de una variante patogénica heterocigota en el gen FGFR2.
La presente prueba consiste en la identificación de mutaciones puntuales en los exones 8 y 10 del gen FGFR2 .
FGFR3 (CRANEOSINOSTOSIS)
El síndrome de Muenke se define por la presencia de la variante patógena específica del gen FGFR3 – c.749C>G – que resulta en el cambio de proteína p.Pro250Arg.
El síndrome de Muenke se caracteriza por una considerable variabilidad fenotípica: las características pueden incluir sinostosis coronal (más a menudo bilateral que unilateral); sinostosis de otras suturas, todas las suturas (pansinostosis), o ninguna sutura; o macrocefalia.
La presente prueba consiste en la identificación de la mutación puntual p.Pro250Arg (c.749C>G) en el exón 7 del gen FGFR3.
TRISOMÍAS 13, 18, 21, XXX, XYY y XXY
El estudio consiste en la detección de anomalías numéricas en los cromosomas 13, 18, 21 y cromosomas sexuales haciendo uso de la técnica de electroforesis capilar.
SÍNDROME DE TURNER
El Síndrome de Turner consiste en una anomalía cromosómica donde uno de los cromosomas sexuales “X” no se encuentra presente. El estudio consiste en detectar la presencia o ausencia del cromosoma sexual “X” mediante la técnica de electroforesis capilar.
SÍNDROME DE PRADER WILLI/ANGELMAN
“El síndrome de Prader-Willi (PWS) se caracteriza por hipotonía severa, falta de apetito y dificultades para alimentarse en la primera infancia, seguido por una alimentación excesiva en la niñez y el desarrollo gradual de obesidad mórbida (a menos que la ingesta de alimentos esté estrictamente controlada). Los hitos motores y el desarrollo del lenguaje se retrasan. Todos los individuos tienen algún grado de deterioro cognitivo. El hipogonadismo está presente tanto en hombres como en mujeres y se manifiesta como hipoplasia genital, desarrollo puberal incompleto y, en la mayoría, infertilidad. La baja estatura es común (si no se trata con hormona de crecimiento). Un fenotipo conductual distintivo (rabietas, terquedad, comportamiento manipulador y características obsesivo-compulsivas) es común. Los rasgos faciales característicos, el estrabismo y la escoliosis a menudo están presentes.” El Síndrome de Angelman (AS) se caacteriza por retardo en el desarrollo o discapacidad intelectual severos, deterioro severo del habla, ataxia de la marcha y/o temblor de las extremidades, y comportamiento feliz, risa frecuente, sonrisa y excitabilidad. La microcefalia y las convulsiones son comunes. La hipotonía puede ser la única manifestación de AS en la infancia.
https://www.ncbi.nlm.nih.gov/books/NBK1330/
El estudio consiste en determinar el número de copias de las regiones vinculadas a PWS y AS mediante Amplificación de Sondas Dependiente de Ligandos Múltiples (MLPA)
21 MICROARREGLOS PARA FENOTIPO DE RETRASO COGNITIVO Y RETRASO PSICOMOTOR
El diagnóstico precoz de los trastornos del desarrollo permite detectar causas tratables, realizar intervenciones oportunas y dar respuestas a inquietudes de la familia evitando procedimientos innecesarios (Avaria, 2022). Puesto que el retraso global del desarrollo o discapacidad intelectual comprenden fenotipos amplios y heterogéneos, para su diagnóstico se requieren estudios multidisciplinarios, en el que la genética es una herramienta más para detectar algún problema vinculado al retraso existente. El estudio comprende la detección de aneusomías segmentarias como ser microdeleciones y/o microduplicaciones cromosómicas en 1p36; 2p16.1; 2q23.1; 2q32; 3q29; 3q29 (microduplicación); 4p16.3 (Wolf-Hirschhorn); 8q2 (Langer-Giedion); 22q11.2 (Microduplicación), 22q11.2 (Distal); 22q13.33 (Phelan-Mc Dermind); 9q22.3; 15q24 (Witteveen Kolk); 17p13.3 (Miller-Dieker); 17p11.2 (Smith-Magenis); 17p11.2 (Potocki-Lupski); 17q11.2 (Microdeleción NF1); 17q21.31 Koolen-de Vries; 17q21.31 (Microduplicación); Xq28 (Rett); Xq28 ( Duplicación MECP2); 5p15 (Cri-du Chat); 5q35.3 (Sotos); 7q11.23 (Williams-Beuren); 7q11.23 (Williams-Beuren duplicación); 16p13.3 (Rubinstein-Taybi); 22q11.21 (DiGeorge); 10p13 (DiGeorge región 2), mediante Amplificación de Sondas Dependiente de Ligandos Múltiples (MLPA).
ATROFIA MUSCULAR ESPINAL (AME)
La Atrofia Muscular Espinal (AME) se caracteriza por debilidad muscular y atrofia resultante de la degeneración progresiva y la pérdida irreversible de las células del asta anterior en la médula espinal (es decir, las neuronas motoras inferiores) y los núcleos del tronco encefálico. La aparición de la debilidad varía desde antes del nacimiento hasta la edad adulta. La debilidad es simétrica, proximal > distal y progresiva. Sin embargo, las nuevas opciones de tratamiento dirigidas disponibles están cambiando la historia natural de esta enfermedad.
https://www.ncbi.nlm.nih.gov/books/NBK1352/
En pacientes menores a 6 meses de edad se debe tomar en cuenta lo siguiente:
- Escala abreviada de desarrollo 3 para la sección de motricidad gruesa que NO cumple con uno o más de los ítems requeridos según su rango de edad, mostrando un retraso en su desarrollo motor.
- Debilidad muscular en miembros inferiores o extensores del cuello.
- Hipotonía (proximal y simétrica)
- Reflejos tendinosos ausentes o disminuidos.
- Fasciculaciones linguales.
- Respiración paradójica (tórax en campana).
- Llanto o succión/deglución débil.
- Capacidad sensitiva y cognitiva NORMAL. El estudio consiste en detectar deleciones y duplicaciones en los genes SMN1, SMN2 y exón 5 del gen NAIP mediante Amplificación de Sondas Dependiente de Ligandos Múltiples (MLPA).
DISTROFIA MUSCULAR DE DUCHENNE/DISTROFIA MUSCULAR DE BECKER
La Distrofia Muscular de Duchenne (DMD) generalmente se presenta en la primera infancia con hitos motores retrasados, incluidos retrasos en caminar de forma independiente y ponerse de pie desde una posición supina. La debilidad proximal causa una marcha de pato y dificultad para subir escaleras, correr, saltar y ponerse de pie desde una posición en cuclillas. Es rápidamente progresiva, y los niños afectados dependen de sillas de ruedas a la edad de 12 años. La miocardiopatía ocurre en casi todas las personas con DMD después de los 18 años de edad. Pocos sobreviven más allá de la tercera década, siendo las complicaciones respiratorias y la miocardiopatía progresiva las causas comunes de muerte. La Distrofia Muscular de Becker (DMB) se caracteriza por debilidad del músculo esquelético de aparición tardía. Con técnicas de diagnóstico mejoradas, se ha reconocido que el extremo leve del espectro incluye a los hombres con inicio de síntomas después de los 30 años que permanecen ambulatorios incluso hasta los 60 años. A pesar de la afectación más leve del músculo esquelético, la insuficiencia cardíaca por DMB es una causa común de morbilidad y la causa más común de muerte. La edad media de muerte es a mediados de los 40 años.
https://www.ncbi.nlm.nih.gov/books/NBK1119/
El estudio consiste en detectar deleciones y duplicaciones en el gen DMD mediante Amplificación de Sondas Dependiente de Ligandos Múltiples (MLPA).
GENOMA MITOCONDRIAL
Se analizan los 37 genes del ADN mitocondrial:
MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MTND1, 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, MTTG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MTTP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MTTY.
GENOMA MITOCONDRIAL Y GENES NUCLEARES RELACIONADOS
Se analizan 451 genes:
AARS2, AASS, ABAT, ABCB6, ABCB7, ABCD1, ABCD3, ACACA, ACAD8, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACO2, ACOX1, ACSF3, ACSL4, ADAR, AFG3L2, AGK, AGXT, AIFM1, AK2, ALAS2, ALDH18A1, ALDH2, ALDH3A2, ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1, AMACR, AMPD1, AMT, APTX, ATIC, ATP5F1A, ATP5F1E, ATP7B, ATPAF2, AUH, BAG3, BCKDHA, BCKDHB, BCKDK, BCS1L, BOLA3, BTD, C19orf12, C1QBP, CA5A, CARS2, CAT, CAVIN1, CEL, CHAT, CHCHD10, CISD2, CLPB, CLPP, COA5, COA6, COA7, COA8, COASY, COMT, COQ2, COQ4, COQ6, COQ7, COQ8A, COQ8B, COQ9, COX10, COX14, COX15, COX20, COX4I2, COX6A1, COX6B1, COX7B, CPOX, CPS1, CPT1A, CPT1C, CPT2, CRBN, CYB5A, CYB5R3, CYC1, CYCS, CYP11A1, CYP11B1, CYP11B2, CYP24A1, CYP27A1, CYP27B1, D2HGDH, DARS2, DBT, DGUOK, DHCR24, DHODH, DHTKD1, DIABLO, DLAT, DLD, DMGDH, DNA2, DNAJC19, DNM1L, EARS2, ECHS1, ELAC2, EPHX2, ETFA, ETFB, ETFDH, ETHE1, FAH, FARS2, FASTKD2, FBXL4, FDX2, FECH, FH, FKBP10, FLAD1, FOXRED1, FXN, GAMT, GARS1, GATM, GCDH, GCSH, GDAP1, GFER, GFM1, GFM2, GK, GLDC, GLRX5, GLUD1, GLYCTK, GPI, GPT2, GPX1, GRHPR, GSR, GTPBP3, HADH, HADHA, HADHB, HAMP, HARS2, HAX1, HCCS, HIBCH, HINT1, HK1, HLCS, HMBS, HMGCL, HMGCS2, HOGA1, HSD17B10, HSD17B4, HSD3B2, HSPA9, HSPD1, HTRA2, IARS2, IBA57, IDH2, IDH3B, IFIH1, ISCA1, ISCA2, ISCU, IVD, KARS1, KRT5, KRT8, L2HGDH, LAMP2, LARS2, LIAS, LIPT1, LIPT2, LMBRD1, LONP1, LRPPRC, LYRM7, MAOA, MARS2, MCCC1, MCCC2, MCEE, MECR, MFF, MFN2, MGME1, MICU1, MIPEP, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MMUT, MOCS1, MPC1, MPV17, MRPL3, MRPL44, MRPS16, MRPS2, MRPS22, MRPS34, MSRB3, MSTO1, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MTCO3, 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, MTTG, 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, MTFMT, MTHFD1, MTO1, MTPAP, MTRFR, MTRR, NADK2, NAGS, NARS2, NAXE, NBAS, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA6, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB11, NDUFB3, NDUFB8, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NFU1, NGLY1, NNT, NR2F1, NTHL1, NUBPL, NUP62, OAT, OGDH, OPA1, OPA3, OTC, OXCT1, P4HB, PAM16, PANK2, PARK7, PARS2, PC, PCCA, PCCB, PCK2, PDHA1, PDHB, PDHX, PDK3, PDP1, PDSS1, PDSS2, PDX1, PET100, PEX11B, PHYH, PINK1, PKLR, PMPCA, PMPCB, PNKD, PNPLA8, PNPO, PNPT1, POLG, POLG2, POP1, PPOX, PRODH, PSAP, PTRH2, PTS, PUS1, PYCR1, PYCR2, QDPR, RARS1, RARS2, RDH11, RMND1, RNASEH1, RNASEH2A, RNASEH2B, RNASEH2C, RPIA, RPL35A, RPS14, RRM2B, SACS, SARS2, SBDS, SCN1A, SCO1, SCO2, SDHA, SDHAF1, SDHAF2, SDHD, SECISBP2, SERAC1, SFXN4, SLC16A1, SLC19A2, SLC19A3, SLC22A5, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A26, SLC25A3, SLC25A38, SLC25A4, SLC25A42, SLC25A46, SLC39A8, SLC52A2, SLC6A8, SLC9A6, SNAP29, SOD1, SOD2, SPAST, SPG7, SPR, SPTLC2, STAR, STAT2, STXBP1, SUCLA2, SUCLG1, SUGCT, SUOX, SURF1, TACO1, TAFAZZIN, TANGO2, TCIRG1, TFR2, TIMM50, TIMM8A, TIMMDC1, TK2, TMEM126A, TMEM126B, TMEM70, TMLHE, TOP3A, TPI1, TPK1, TREX1, TRIT1, TRMT10C, TRMT5, TRMU, TRNT1, TSFM, TTC19, TUBB3, TUFM, TWNK, TYMP, UNG, UQCC2, UQCRB, UQCRC2, UQCRQ, VARS2, WARS2, WDR45, WDR81, WFS1, XPNPEP3, YARS2 .
GENES ATP6, ND1, CYTB, HVI Y HVII
El estudio se realiza a recién nacidos para descartar alguna enfermedad como ser: hipotiroidismo congénito, fibrosis quística, hiperplasia adrenal congénita, galactosemia, aminoacidopatías, acidemias orgánicas, trastornos en la oxidación de ácidos grasos, hemoglobinopatías y muchas más.
Enfermedad poco frecuente, subdiagnósticada, definida por el depósito en el espacio extracelular de proteínas mal plegadas. El panel detecta la proteína involucrada en la enfermedad para luego definir un tratamiento.
Son un grupo heterogéneo de 50 trastornos metabólicos hereditarios. Se caracterizan por el déficit genético de enzimas u otras proteínas relacionadas con la hidrólisis de macromoléculas en los lisosomas. “Su sintomatología es multisistémica, y salvo por la existencia en algunos signos típicos dismórficos, en general, son difíciles de diagnosticar.” El panel detecta las enfermedades de Fabry, Gaucher, Pompe, Mucopolisacaridosis tipos I, II, IV, VI y VII.
El servicio de asesoramiento genético consiste en una valoración del (la) paciente, de tal forma que se pueda llegar al diagnóstico que coadyuve a un mejor desarrollo y bienestar físico. Este panel también comprende la planificación familiar.
Ya que todo resultado genético debe ir acompañado de un asesoramiento por parte de un médico genetista, este panel ofrece el servicio de interpretación de cualquier resultado genético.
