Limb girdle muscular dystrophies is a term generally used to describe progessive weakness and wasting restricted to the limb musculature (proximal greater than distal), due to a genetic defect that is distinct from X-linked dystrophinopathy. Muscle biopsy can show diffuse variation in fiber size, necrosis, regeneration and fibrosis. Onset of symptoms can range from early childhood to late adulthood, and progression and distribution of the weakness and wasting can vary considerably amongst individuals and subtypes.
Our Limb Girdle Muscular Dystrophy Sequencing Panel includes all of the following 31 genes: MYOT, LMNA, CAV3, DES, DNAJB6, FLNC, CAPN3, DYSF, SGCG, SGCA, SGCB, SGCD, TCAP, TRIM32, FRKP, TTN, POMT1, ANO5, FKTN, POMT2, POMGnT1, DAG1, PLEC, GAA, GMPPB, HNRNPDL, TNPO3, LIMS2, POMK, TRAPPC11, ISPD.
Any gene in the Limb Girdle Muscular Dystrophy panel can also be ordered individually. Please contact us directly for cost and CPT code information.