Limb-Girdle Muscular Dystrophy
NGS panel

Genes
(full coding
region):		 ANO5, BVES, CAPN3, CAV3, CRPPA, DAG1, DES, DMD, DNAJB6, DOK7, DYSF, FKRP, FKTN, GAA, GMPPB, HNRNPDL, LAMA2, LIMS2, LMNA, MYOT, PLEC, PNPLA2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, SELENON, SGCA, SGCB, SGCD, SGCG, SMCHD1, SYNE1, TCAP, TNPO3, TOR1AIP1, TRAPPC11, TRIM32, TTN

List of diseases covered by the panel
Non-coding variants: List of non-coding variants covered by the panel
Lab method: NGS panel with CNV analysis
TAT: 6-9 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis

Genes: ANO5, CAPN3, DYSF, FKRP, LCAV3, LMNA, MYOT, SGCA, SGCB, SGCD, SGCG, ZMPSTE24
Lab method: MLPA
TAT: 4-6 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

2 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form