NGS and bioinformatic CNVs screening, 32-gene panel: AARS2,ABAT,ABCD1,AIMP1,ARSA,CLCN2,CSF1R,DARS,DARS2,EARS2,EIF2B1,EIF2B2,EIF2B3,EIF2B4,EIF2B5,FAM126A,GALC,GJC2,HSPD1,HTRA1,LMNB1,NOTCH3,PLP1,POLR1C,POLR3A,POLR3B,PSAP,SCP2,TREM2,TREX1,TUBB4A,VPS11,

Consult

Ref: LV4242 Categories: , , , , , , Diseases: Leukodystrophies and  Leukoencephalopathies Genes: POLR3B, GALC, EIF2B3, NOTCH3, TREM2, ARSA, EARS2, TUBB4A, EIF2B1, LMNB1, CLCN2, EIF2B4, DARS, SCP2, DARS2, EIF2B2, FAM126A, PLP1, AARS2, HSPD1, EIF2B5, POLR3A, AIMP1, HTRA1, POLR1C, CSF1R, ABAT, PSAP, GJC2, TREX1, ABCD1-2, VPS11-2Delivery term: 49 days