Congenital myopathies are a heterogeneous group of diseases that share early onset symptoms and specific muscle histopathological abnormalities. In most cases, the genetic study can determine the causal mutation. There is phenotypic and genotypic heterogeneity, meaning that one genotype can express itself in more than one clinicopathological form and one phenotype can be caused by different genetic mutations.
ICM boasts different diagnostic solutions for every situation, offering:
- The sequencing of a single gene
- Study of gene deletions and duplications
- NGS panels of various genes grouped by phenotype
- A global panel of myopathies
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