Limb-girdle muscular dystrophies comprises a group of clinically and genetically highly heterogeneous disorders. The common features include progressive weakness of proximal muscles, increased plasma creatine kinase levels and abnormal muscle histopathology. It is characterized by wide variability in clinical features, rate of progression, and age of onset (from childhood to adulthood).

The Limb girdle muscular dystrophy NGS panel consists of thirty-five genes: ANO5, CAPN3, CAV3, DAG1, DES, DNAJB6, DYSF, EMD, FHL1, FKRP, FKTN, FLNC, GAA, GMPPB, HNRNPDL, ISPD, LARGE1, LIMS2, LMNA, MYOT, PLEC, POMGNT1, POMK, POMT1, POMT2, SGCA, SGCB, SGCD, SGCG, TCAP, TNPO3, TOR1AIP1, TRAPPC11, TRIM32 and TTN.

Copy number variation (CNV) analysis of the limb girdle muscular dystrophy genes is also offered as a panel. Additionally, CTGT offers a comprehensive test (both NGS and CNV panels) for these genes. Panel genes are also offered as individual sequencing and deletion/duplication tests unless otherwise indicated.