Accidente cerebrovascular y trastornos vasculares de otros órganos (incluye aneurisma de aorta, enfermedad de moyamoya, trombosis cerebral, accidente cerebro-vascular y trastornos vasculares de otros órganos)
Catálogo: Catálogo genética médica con informe
Referencia: LV4988
G00088
G01186
Especialidad: Neurología
Secuenciación masiva y cribado bioinformático de CNVs, panel de 294 genes: ABCA1, ABCC6, ABCG5, ABCG8, ACAD9, ACE, ACTA2, ACTC1, ACVRL1, ADA2, ADAMTS2, AEBP1, AGXT, AKT1, ALDH18A1, ALG8, ALMS1, ALOX5AP, ALX4, ANGPTL3, ANTXR1, APOA1, APOA2, APOA5, APOB, APOC2, APOC3 , APOE, APP, ASS1, ATP6V1A, ATP6V1E1, ATP7A, B3GALT6, B4GALT7, BGN, BICC1, BMPR2, BRAF, C1R, C1S, CACNA1D, CACNA1H, CBL, CCM2, CD46, CETP, CFH, CFI, CHST14, CITED2, CLCN2, COL12A1, COL1A1, COL1A2, COL3A1, COL4A1, COL4A2, COL5A1, COL5A2, COLGALT1, CPS1, CPT2, CRELD1, CST3, CYP11B1, DLST, DOCK6, DOCK8, DPM3, DSE, DYRK1B, EDN1, EFEMP2, EIF2AK4, ELN, ENG, ENPP1, EPAS1, EPHB4, EPHX2, EPOR, F10, F13A1, F13B, F2, F5, F7, F8, F9, FANCA, FANCC, FANCD2, FANCE, FANCF, FANCI, FANCL, FBLN5, FBN1, FBN2, FGA, FGB, FGG, FH, FKBP14, FLNA, FLNC, FN1, FOXE3, FOXF1, G6PC3, GAA, GANAB, GATA4, GATA6, GBA1, GBE1, GCKR, GDF2, GDNF, GGCX, GHR, GLA, GLMN, GNAQ, GP1BA, GP1BB, GPD1, GPIHBP1, GUCY1A1, GYS1, HABP2, HBB, SERPIND1, HRG, HSD11B2, HTRA1, IFIH1, IL6, ITGA2B, ITGB3, IVD, JAG1, JAK2, KCNK3, KCNQ1, KDR, KIF1B, KRAS, KRIT1, LCAT, LDLR, LDLRAP1, LIPA, LIPC, LMAN1, LMBRD1, LMF1, LMNA, LOX, LPL, LRP6, LTBP4, LZTR1, MAP2K1, MAP2K2, MAPK1, MAT2A, MAX, MCFD2, MEF2A, MFAP5, MMACHC, MMUT, MPL, MRAS, MSX2, MTHFR, MTTP, MYBPC3, MYH11, MYH6, MYH7, MYLK, MYPN, NF1, NKX2-5, NOS3, NOTCH1, NOTCH3, NPPA, NR2F2, NR3C1, NRAS, OTC, PCCA, PCCB, PCNT, PCSK9, PDCD10, PDGFB, PDGFRB, PGM1, PIK3CA, PLD1, PLOD1, PLOD3, PMM2, PNP, PPP1CB, PRDM5, PRDX1, PRKAG2, PRKCH, PRKG1, PROC, PROS1, PROZ, PTEN, PTPN11, RAF1, RASA1, RASA2, RET, RFT1, RIGI, RIN2, RIT1, RNF213, ROBO4, RRAS, RRAS2, RYR1, RYR2, SAMD9, SAMD9L, SAR1B, SCN5A, SDHA, SDHAF2, SDHB, SDHC, SDHD, SERPINC1, SERPINE1, SHOC2, SKI, SLC19A2, SLC20A2, SLC25A11, SLC2A10, SLC39A13, SLX4, SMAD3, SMAD4, SMAD6, SMAD9, SOS1, SOS2, SPARC, SPRED1, STAP1, STAT1, STIM1, TAB2, TBX20, TBX4, TECRL, TEK, TERT, TGFB2, TGFB3, TGFBR1, TGFBR2, THBD, THPO, THSD1, TLL1, TMEM127, TNNI3, TNNI3K, TNNT2, TNXB, TP53, TREX1, TTR, VHL, WAS, WFS1, WIPF1, XYLT1, XYLT2, YY1AP1, ZNF469 y análisis del genoma mitocondrial
