NGS and bioinformatic CNVs screening, 54-gene panel: AARS2,ABCA7,ABCD1,APOE,APP,ATP13A2,ATP1A3,ATP7B,C19orf12,CHCHD10,CHMP2B,CLN3,CLN6,CSF1R,CST3,CTSF,CYP27A1,DCTN1,DNAJC5,DNMT1,EPM2A,ERCC4,FUS,GBA,GRN,HEXA,HNRNPA2B1,HTRA1,ITM2B,MAPT,MMACHC,NHLRC1,NOTCH3,NPC1,NPC2,PRNP,PSEN1,PSEN2,RNF216,SERPINI1,SNCA,SNCB,SQSTM1,TARDBP,TBK1,TREM2,TREX1,TTR,TUBA4A,TWNK,TYROBP,UBQLN2,VCP,WDR45,

Consult

Ref: LV4245 Categories: , , , , Diseases: DementiaGenes: RNF216, TYROBP, GRN, ABCA7, NOTCH3, SNCB, PSEN1-EN, CHMP2B, FUS, TREM2, DNAJC5, CST3, C10ORF2, EPM2A, TTR, NPC2, TARDBP, HNRNPA2B1, ATP7B, AARS2, TUBA4A, CLN6, APOE, C19ORF12, MMACHC, CYP27A1, ITM2B, NPC1, APP, PSEN2, SNCA, ATP13A2, SQSTM1, SERPINI1, VCP, HTRA1, PRNP, CTSF, CSF1R, TBK1, NHLRC1, UBQLN2, CLN3, DCTN1, HEXA, TREX1, GBA-2, ABCD1-2, WDR45-2, ATP1A3-2, CHCHD10-2, MAPT-2, DNMT1-2, ERCC4-2Delivery term: 49 days