Diagnostic workout

The identification of molecular defects underlining genetic disorders is the first step to understand their pathogenesis and to establish suitable therapeutic interventions. Neuromuscular disorders are generally caused by a wide spectrum of genetic defects, making the molecular diagnosis a challenge. The molecular diagnosis improves our comprehension of the clinical consequences of single mutations (genotype-phenotype correlation). These results are useful for diagnostic and prognostic purposes and for genetic counseling.

The team of the Laboratory of Biochemistry and Genetics perform a huge panel of biochemical and genetic assays to investigate neuromuscular disorders. These methods rely upon sophisticated equipment and investigators with a solid expertise. Laboratory results integrate with additional expertise present in Dino Ferrari Center and Policlinico hospital including: clinical assessments of the patients, neuroradiological analysis and morphological studies performed on patients’ biopsies.

Overall, these efforts contribute to achieve a first-class service in the diagnosis of neuromuscular disorders at national and international level.

Our team performs the molecular screening of more than 100 genes including those associated with familial Amyotrophic Lateral Sclerosis (ALS1, ALS9, ALS8, ALS10) and other motor neuron disorders (SMA, SMARD1, DSMAV), hereditary neuropathy (CMT2A2, CMT2D, CMT2B1, CMT4A), neurodegenerative disorders such as prion disease, frontotemporal dementia VCP, PGRN, CHMP2B), Parkinson’s Disease (PARK1, PARK2, PARK6, PARK7, PARK8), Duchenne and Becker muscular dystrophies (DYS), limb girdle muscular dystrophies (type 1A, 1B, 1C and type 2 from A to G, 2I, 2K, 2M), congenital and myofibrillar myopathies, myotonic dystrophies (MD1, MD2), muscular channelopathies, metabolic diseases (glycogen storage disorders, mitochondrial disorders). Diagnostic workout also includes several biochemical assays (glucose and lipids metabolism, mitochondrial respiratory chain activity) and the assessment of sarcolemmal protein amount by Western blot analysis.

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