LIMB MUSCLE DYSTROPHY (LGMD): CLINICAL EXOME PANEL (Sec. & CNVs) – 54 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Limb-Girdle Muscular Dystrophy (LGMD) panel analyzes 54 genes associated with a heterogeneous group of inherited muscular dystrophies characterized by progressive weakness and atrophy of the proximal limb muscles, primarily affecting the pelvic and shoulder girdles. These diseases can present in childhood or adulthood and exhibit variable progression, frequently accompanied by elevated creatine phosphokinase (CPK), contractures, and cardiac or respiratory involvement. The panel identifies the main autosomal dominant and recessive forms of LGMD, including sarcoglycanopathies (SGCA, SGCB, SGCD, SGCG), calpainopathy (CAPN3), dysferlinopathy (DYSF), collagen VI muscular dystrophy (COL6A1-3), FKRP-related, laminopathy (LMNA), and forms associated with DES, TTN, TRIM32, FLNC, or POMT1, among others. Using next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs, this study enables precise molecular diagnosis, facilitating clinical classification, prognosis, therapeutic guidance, and family counseling. Among the most relevant genes are CAPN3, DYSF, FKRP, LMNA, SGCA, SGCB, SGCG, COL6A3, and TTN. For a complete list of genes, please contact Genotica.
Other tests
Preventive health test - AboutMe EXOME
545,00€
NEUROFIBROMATOSIS: GENES SMARCB1 Y LZTR1 (NGS-Sec) – ATG Medical
600,00€
Custom sequencing panels (1 to 15 genes)
660,00€