{"product_id":"distrofias-musculares-miopatias-panel-por-exoma-clinico-sec-cnvs-250-genes","title":"MUSCULAR DYSTROPHIES \/ MYOPATHIES: CLINICAL EXOME PANEL (Sec. \u0026amp; CNVs) – 250 genes","description":"\u003cp\u003eThe Muscular Dystrophies and Myopathies panel analyzes 250 genes associated with a wide spectrum of inherited neuromuscular diseases that affect the structure, function, and metabolism of skeletal muscle. These conditions are characterized by progressive muscle weakness, exercise intolerance, contractures, myotonia, elevated CPK levels, and, in some cases, cardiac or respiratory involvement. The panel allows the study of muscular dystrophies (such as Duchenne\/Becker muscular dystrophy, limb-girdle muscular dystrophies such as sarcoglycanopathies, calpainopathy or dysferlinopathy, Emery-Dreifuss muscular dystrophy, congenital collagen VI or LAMA2 dystrophies), congenital myopathies (such as nemaline, central, myotubular, and desminopathies), metabolic myopathies (due to defects in GAA, CPT2, RYR1, PYGM, or SUCLA2), and muscle channelopathies (such as those caused by mutations in SCN4A, CACNA1S, or CLCN1). Next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs allows the identification of pathogenic variants in genes involved in sarcomeric contraction, sarcolemma integrity, neuromuscular transmission, glycolysis, energy metabolism, and mitochondrial biogenesis. Among the most relevant genes included in this panel are DMD, LMNA, TTN, RYR1, CAPN3, DES, SGCA, SGCB, SGCG, COL6A1, COL6A2, COL6A3, FKRP, LAMA2, SELENON, and MYH7, among others. You can consult the complete list of genes by contacting Genotica.\u003c\/p\u003e","brand":"LabGenetics","offers":[{"title":"Default Title","offer_id":52131425321226,"sku":null,"price":850.0,"currency_code":"EUR","in_stock":true}],"url":"https:\/\/www.genotica.com\/en\/products\/distrofias-musculares-miopatias-panel-por-exoma-clinico-sec-cnvs-250-genes","provider":"Genotica","version":"1.0","type":"link"}