NGS and bioinformatic CNVs screening, 56-gene panel: AARS2,ACTB,ADAR,ADCY5,ANO3,APTX,ARSA,ATP13A2,ATP1A3,ATP7B,B4GALNT1,CARS2,CIZ1,COL4A1,COL6A3,COQ9,EARS2,ECHS1,FTL,GCH1,GM2A,GNAL,GNAO1,GNB1,HNRNPA2B1,HPCA,KCTD17,KMT2B,MCOLN1,MECP2,MECR,NADK2,PANK2,PNKD,POLR3A,PRKRA,PRRT2,PTS,SCP2,SERAC1,SGCE,SLC2A1,SLC6A3,SPR,TAF1,TH,THAP1,TIMM8A,TOR1A,TRAPPC11,TSFM,TTC19,TUBB4A,VAC14,WARS2,WDR45,

Consult

Ref: LV4251 Categories: , , , , , , Diseases: Inherited dystoniasGenes: TTC19, GNB1, FTL, GNAO1, COQ9, MCOLN1, ARSA, KCTD17, VAC14, EARS2, TUBB4A, SPR, SCP2, MECR, WARS2, SLC2A1, HPCA, SERAC1, HNRNPA2B1, ATP7B, TSFM, AARS2, PANK2, PNKD, ECHS1, SGCE, THAP1, GCH1, ANO3, CARS2, B4GALNT1, TOR1A, APTX, GNAL, TAF1, CIZ1, POLR3A, PTS, NADK2, ATP13A2, ADAR, PRRT2, TRAPPC11, ADCY5, TH, PRKRA, COL4A1, GM2A, TIMM8A-2, MECP2-2, WDR45-2, KMT2B-2, ATP1A3-2, SLC6A3-2, ACTB-2, COL6A3-2Delivery term: 49 days