NGS and bioinformatic CNVs screening, 35-gene panel: ANO5,BVES,CAPN3,CAV3,COL6A1,COL6A2,COL6A3,DAG1,DNAJB6,DPM3,DYSF,FKRP,FKTN,GMPPB,HNRNPDL,ISPD,LAMA2,LIMS2,MYOT,PLEC,POGLUT1,POMGNT1,POMGNT2,POMK,POMT1,POMT2,SGCA,SGCB,SGCD,SGCG,TCAP,TNPO3,TRAPPC11,TRIM32,TTN,

Consult

Ref: LV4273 Categories: , , , , Diseases: Limb-girdle muscular dystrophiesGenes: POMT2, TNPO3, LIMS2, POMGNT1, CAPN3, DNAJB6, FKTN, BVES, POMT1, DYSF, POMGNT2, HNRNPDL, POGLUT1, TRAPPC11, ANO5, DAG1, GMPPB, DPM3, FKRP, POMK, ISPD, PLEC-2, MYOT-2, SGCA-2, SGCB-2, SGCD-2, SGCG-2, TCAP-2, TRIM32-2, CAV3-2, TTN-2, LAMA2-2, COL6A3-2, COL6A1-2, COL6A2-2Delivery term: 49 days