Otros trastornos del movimiento: Esclerosis Lateral Amiotrófica, Parkinson, Temblor, Distonías, Corea, Demencias y Alzheimer
Catálogo: Catálogo genética médica con informe
Referencia: LV4244
Especialidad: Neurología
Secuenciación masiva y cribado bioinformático de CNVs, panel de 175 genes: AARS2, ABCA7, ABCD1, ACTB, ADAR, ADCY5, ALS2, ANG, ANO3, APOE, APP, APTX, ARSA, ATP13A2, ATP1A3, ATP6AP2, ATP7B, B4GALNT1, C19orf12, C9orf72, CARS2, CHCHD10, CHCHD2, CHMP2B, CIZ1, CLN3, CLN6, COL4A1, COL6A3, COQ9, CP, CSF1R, CST3, CTSF, CYP27A1, DCTN1, DNAJC5, DNAJC6, DNMT1, DPM1, EARS2, ECHS1, EIF4G1, EPM2A, ERBB4, ERCC4, FBXO7, FIG4, FMR1, FTL, FUS, GBA1, GCH1, GIGYF2, GLDC, GM2A, GNAL, GNAO1, GNB1, GOSR2, GPT2, GRIK2, GRN, HEXA, HNRNPA1, HNRNPA2B1, HPCA, HTRA1, HTRA2, HTT, ITM2B, KCNA2, KCNC1, KCTD17, KIF1C, KMT2B, LRRK2, LYST, MAPT, MATR3, MCOLN1, MECP2, MECR, MMACHC, MRE11, MTFMT, MYH14, NADK2, NEFH, NEK1, NHLRC1, NKX2-1, NOTCH3, NPC1, NPC2, OPTN, PANK2, PARK7, PDGFB, PDGFRB, PDSS2, PFN1, PINK1, PLA2G6, PMPCA, PNKD, PODXL, POLG, POLR1C, POLR3A, POLR3B, PRKN, PRKRA, PRNP, PRRT2, PSEN1, PSEN2, PTS, RAB39B, RNF216, SCARB2, SCP2, SCYL1, SERAC1, SERPINI1, SETX, SGCE, SIGMAR1, SLC20A2, SLC2A1, SLC6A1, SLC6A3, SLC9A1, SNCA, SNCB, SOD1, SORL1, SPG11, SPR, SQSTM1, STXBP1, SYNJ1, TAF1, TARDBP, TBK1, TENM4, TH, THAP1, TIMM8A, TMEM240, TOR1A, TPK1, TRAPPC11, TREM2, TREX1, TSFM, TTC19, TTR, TUBA4A, TUBB4A, TWNK, TYROBP, UBQLN2, UCHL1, VAC14, VAPB, VCP, VPS13A, VPS13C, VPS35, WARS2, WDR45, WFS1, XK, XPR1
