Paraplejias, leucodistrofias y otras patologías asociadas
Catálogo: Catálogo genética médica con informe
Referencia: LV4995
Especialidad: Neurología
Secuenciación masiva y cribado bioinformático de CNVs, panel de 228 genes: AARS2, ABAT, ABCD1, ABHD12, ABHD16A, ACO2, ACP5, AFG3L2, AHDC1, AIMP1, AIMP2, ALDH18A1, ALS2, AMFR, AMPD2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ARL6IP1, ARSA, ARSI, ASNS, ATL1, ATP11A, ATP13A2, ATP1A2, ATP1A3, ATP2B4, ATP8A2, AUH, B4GALNT1, BSCL2, C19orf12, CA8, CACNA1A, CAPN1, CCDC88C, CCT5, CHP1, CLCN2, CLDN11, CNP, COASY, COL4A1, COL4A2, COX6B1, CPT1C, CSF1R, CSNK1D, CTNNB1, CYP27A1, CYP2U1, CYP7B1, DARS1, DARS2, DDHD1, DDHD2, DEGS1, DNA2, DSTYK, EARS2, ECHS1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL4, ELP2, ENTPD1, EPRS1, ERLIN1, ERLIN2, EXOSC3, EXOSC8, FA2H, FARS2, FICD, FXN, GAD1, GALC, GAN, GBA2, GFAP, GJC2, GLB1, GLRX5, GM2A, GPT2, GRID2, GSX2, HEXA, HIKESHI, HPDL, HSD17B4, HSPD1, HTRA1, HYCC1, IBA57, IFIH1, IFRD1, KCNA1, KCNA2, KCND3, KCNK18, KIDINS220, KIF1A, KIF1C, KIF5A, KLC2, KPNA3, L1CAM, L2HGDH, LMNB1, LRP4, LYST, MAG, MAL, MARS1, MARS2, MECP2, MMADHC, MTPAP, MTRFR, NADK2, NALCN, NFU1, NIPA1, NKX6-2, NOTCH3, NPC1, NPC2, NT5C2, OPA1, OPA3, OPHN1, PANK2, PCDH12, PCYT2, PDHX, PEX16, PGAP1, PI4KA, PLA2G6, PLP1, PNKD, PNPLA6, POLR1A, POLR1C, POLR3A, POLR3B, PRNP, PRRT2, PSAP, PSEN1, PYCR2, RARS1, REEP1, REEP2, RNASEH2B, RNF170, RNF220, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCP2, SDHA, SELENOI, SETX, SIL1, SLC16A2, SLC17A5, SLC1A3, SLC1A4, SLC25A15, SLC2A1, SLC33A1, SLC35B2, SLC4A4, SOD1, SOX10, SPART, SPAST, SPG11, SPG21, SPG7, SPR, SPTAN1, STUB1, STXBP1, SYNE1, SYNJ1, TANGO2, TBCD, TECPR2, TFG, TMEM106B, TMEM163, TMEM63A, TMEM63C, TPK1, TREM2, TREX1, TSEN54, TTC19, TTPA, TTR, TUBB4A, UCHL1, UFM1, USP8, VAMP1, VLDLR, VPS11, VPS37A, VWA3B, WARS2, WASHC5, WDR45B, WDR48, WDR81, ZFR, ZFYVE26, ZFYVE27
