NGS and bioinformatic CNVs screening, 41-gene panel: AFG3L2,ANO10,ATP2B3,CACNA1G,CCDC88C,CWF19L1,EEF2,ELOVL4,ELOVL5,FGF14,GRID2,GRM1,IFRD1,ITPR1,KCNC3,KCND3,MME,PDYN,PLD3,PMPCA,PRKCG,RUBCN,SCYL1,SLC9A1,SLC9A6,SNX14,SPTBN2,STUB1,SYNE1,SYT14,TDP1,TDP2,TGM6,TMEM240,TPP1,TRPC3,TTBK2,UBA5,VWA3B,WWOX,ZNF592,

Consult

Ref: LV4235 Categories: , , , , Diseases: Spinocerebellar ataxiasGenes: CACNA1G, IFRD1, ELOVL5, CCDC88C, TDP1, UBA5, SLC9A1, CWF19L1, PDYN, FGF14, STUB1, PLD3, TDP2, ELOVL4, PRKCG, TTBK2, SYNE1, KCNC3, SNX14, TRPC3, AFG3L2, SCYL1, SYT14, RUBCN, ITPR1, GRID2, GRM1, ANO10, PMPCA, TPP1, ZNF592, TGM6, EEF2, VWA3B, SPTBN2, WWOX, MME, TMEM240, ATP2B3-2, SLC9A6-2, KCND3-2Delivery term: 49 days