NGS and bioinformatic CNVs screening, 64-gene panel: ATAD3A,ATP1A2,ATP1A3,CACNA1A,CACNA1C,CACNA1G,CACNB4,CAMTA1,CCDC88C,CSF1R,CTBP1,DNMT1,EBF3,EEF2,ELOVL4,ELOVL5,FGF12,FGF14,FTL,GRM1,IFRD1,ITM2B,ITPR1,KCNA1,KCNA2,KCNC1,KCNC3,KCND3,LMNB1,LRP4,MED13L,MME,MPZ,NAGLU,NKX2-1,OPA1,PAX6,PDYN,PLD3,PLEKHG4,POLG,PRKCG,PRNP,PSEN1,RNF170,SAMD9L,SCN2A,SCN8A,SLC1A3,SLC20A2,SLC2A1,SLC6A1,SNAP25,SOX10,SPR,TGM6,TMEM240,TRPC3,TTBK2,TTR,TUBB4A,TWNK,VAMP1,ZNF423,

Consult

Ref: LV4238 Categories: , , , , , , Diseases: Inherited ataxias autosomal dominantGenes: CACNA1G, IFRD1, PAX6, ELOVL5, CCDC88C, SLC1A3, PSEN1-EN, FTL, PDYN, FGF14, ZNF423, TUBB4A, PLD3, C10ORF2, EBF3, NAGLU, KCNA1, LMNB1, FGF12, SPR, SLC2A1, TTR, ELOVL4, RNF170, MED13L, PRKCG, TTBK2, KCNC1, KCNC3, SNAP25, LRP4, ITM2B, NKX2-1, SCN2A, TRPC3, VAMP1, POLG, ITPR1, GRM1, SLC6A1, CTBP1, TGM6, EEF2, SLC20A2, CAMTA1, PRNP, KCNA2, SAMD9L, CACNB4, CSF1R, PLEKHG4, MME, SCN8A, ATAD3A, TMEM240, ATP1A3-2, MPZ-2, SOX10-2, CACNA1C-2, OPA1-2, DNMT1-2, KCND3-2, ATP1A2-2, CACNA1A-2Delivery term: 49 days