Muerte Súbita
Catálogo: Catálogo genética médica con informe
Referencia: LV4984
G00088
G01183
Especialidad: Cardiovascular
Secuenciación masiva y cribado bioinformático de CNVs, panel de 296 genes:AARS2, ABCA1, ABCC6, ABCC9, ACAD9, ACADVL, ACTA2, ACTC1, ACTN2, ACVRL1, ADAMTS2, AEBP1, AGK, AGL, AKAP9, ALG1, ALG10B, ANGPTL3, ANK2, ANKRD1, APOA1, APOA2, APOA5, APOB, APOC2, APOC3 , APOE, ATP5F1E, ATP6V1A, ATP6V1E1, ATP7A, ATPAF2, BAG3, BGN, BMPR2, BRAF, CFAP298, CACNA1C, CACNA1D, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, CAVIN1, CBL, CCM2, CDH2, CETP, CHST14, COA5, COA6, COL1A1, COL1A2, COL3A1, COL4A1, COL4A2, COL5A1, COL5A2, COLGALT1, COQ2, COX15, COX6B1, CPT2, CRYAB, CSRP3, CTNNA3, DES, DLD, DMD, DNAJC19, DNAL1, DOLK, DPM3, DPP6, DSC2, DSE, DSG2, DSP, DTNA, EFEMP2, EIF2AK4, ELAC2, ELN, EMD, ENG, ENPP1, EYA4, FAH, FBLN5, FBN1, FBN2, FGF12, FHL1, FHL2, FHOD3, FKBP14, FKRP, FKTN, FLNA, FLNC, FOXE3, FOXF1, FOXRED1, FXN, G6PC3, GAA, GATA4, GATA5, GATA6, GATAD1, GBE1, GDF2, GJA1, GJA5, GLA, GLMN, GNAI2, GNB2, GNB3, GPD1L, GTPBP3, GUCY1A1, GYG1, GYS1, HCN4, HEY2, HFE, HRAS, HTRA1, ILK, IRX3, JPH2, JUP, KCNA5, KCND2, KCND3, KCNE1, KCNE2, KCNE3, KCNE4, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNK3, KCNK17, KCNQ1, KRAS, KRIT1, LAMA4, LAMP2, LCAT, LDB3, LDLR, LDLRAP1, LIAS, LIPA, LMNA, LOX, LPL, LRP6, LZTR1, MAP2K1, MAP2K2, MAT2A, MED12, MEF2A, MFAP5, MIB1, MLYCD, MRAS, MRPL3, MRPL44, MRPS22, MTFMT, MTO1, MTTP, MYBPC3, MYBPHL, MYH11, MYH6, MYH7, MYL2, MYL3, MYL4, MYLK, MYLK2, MYOZ2, MYPN, NEXN, NKX2-5, NKX2-6, NOTCH1, NOTCH3, NPPA, NRAS, NUP155, OBSCN, PCSK9, PDCD10, PGM1, PITX2, PKP2, PKP4, PLN, PLOD1, PMM2, PPA2, PPCS, PPP1CB, PRDM16, PRKAG2, PRKG1, PROC, PROS1, PSEN1, PSEN2, PTPN11, QRSL1, RAF1, RANGRF, RASA1, RASA2, RBM20, RIT1, RNF213, ROBO4, RRAS2, RYR1, RYR2, SAR1B, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCO2, SDHA, SDHD, SEMA3A, SGCA, SGCB, SGCD, SHOC2, SLC19A2, SLC22A5, SLC25A26, SLC25A4, SLC2A10, SLC4A3, SLMAP, SMAD3, SMAD4, SMAD6, SMAD9, SNTA1, SOS1, SOS2, SPEG, SPRED1, STAP1, SYNE1, SYNE2, TAFAZZIN, TBX5, TCAP, TECRL, TEK, TGFB2, TGFB3, TGFBR1, TGFBR2, TLL1, TMEM43, TMEM70, TNNC1, TNNI3, TNNI3K, TNNT2, TNXB, TPM1, TRDN, TRIM63, TRPM4, TSFM, TTN, TTR, VCL, XK, ZBTB17, ZNF469
Nefrótico, síndrome
Catálogo: Catálogo genética médica con informe
Referencia: LV4973
GEN_000569
G09008
Especialidad: Nefrología
Secuenciación masiva y cribado bioinformático de CNVs, panel de 52 genes: ACTN4, COQ8B, ANLN, APOL1, ARHGDIA, AVIL, CD2AP, COL4A3, COL4A4, COL4A5, COQ2, COQ6, CRB2, DGKE, EMP2, FAN1, FAT1, FGA, FN1, GSN, INF2, ITGA3, KANK2, LAGE3, LAMA5, LAMB2, LMX1B, LYZ, MAGI2, MYH9, MYO1E, NPHS1, NPHS2, NUP107, NUP133, NUP85, NUP93, OSGEP, PAX2, PLCE1, PTPRO, SCARB2, SGPL1, SMARCAL1, TBC1D8B, TP53RK, TPRKB, TRIM8, TRPC6, WDR4, WDR73, WT1
