{"id":6178,"date":"2024-04-02T11:19:25","date_gmt":"2024-04-02T09:19:25","guid":{"rendered":"https:\/\/dparafernalia.com\/latinseq\/?page_id=6178"},"modified":"2026-08-21T09:42:41","modified_gmt":"2026-08-21T07:42:41","slug":"diagnosis","status":"publish","type":"page","link":"https:\/\/latin-seq.com\/en\/diagnosis\/","title":{"rendered":"Diagnosis"},"content":{"rendered":"

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DIAGNOSTIC STRATEGY<\/h3><\/span>
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The diagnostic strategy of Latin-SEQ uses an algorithm guided by the clinical suspicion of each patient as determined by the referring centre. Patients with hereditary neuromuscular diseases (NMDs) will be evaluated through specific genetic screening using Multiple Ligation Probe Amplification (MLPA) to rule out conditions such as Spinal Muscular Atrophy (SMA), Duchenne\/Becker muscular dystrophy, and Charcot-Marie-Tooth neuropathies, or sequencing of recurrent mutations associated with congenital myasthenic syndromes and mitochondrial myopathies. This initial screening is expected to diagnose approximately 20% of cases. Cases not diagnosed through this method will proceed to whole exome sequencing.<\/p>\n

In the first stage, exomes will be analysed focusing on a panel of over 600 genes related to neuromuscular diseases (based on http:\/\/www.musclegenetable.fr\/<\/a>) which will be updated every 6 months. This approach is expected to resolve 40-60% of cases. For unresolved cases, a more thorough analysis of the whole exome will be conducted, including sequencing of family members when possible. This approach will not only facilitate the diagnosis of rare diseases but also the identification of new genes. In such cases, studies will be conducted to validate the pathogenicity of identified variants and confirm their relevance using various criteria, including in silico analyses and functional studies in cellular or animal models.<\/p>\n

In Latin-SEQ, the interpretation and analysis of genetic results follow a meticulous and rigorous process: the obtained data are analysed iteratively, and preliminary results are shared with referring physicians. These results are discussed in regular meetings to evaluate the findings based on the patient\u2019s and family\u2019s clinical presentation. For cases considered resolved, a final genetic report will be issued. For more complex cases, multidisciplinary meetings will be held where genetic results will be discussed alongside other available studies such as MRI or muscle biopsy.<\/p>\n<\/div><\/div><\/div><\/div><\/div>

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GENETIC REPORTS<\/h3><\/span>
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The genetic reports* issued by the coordinating team will provide information on the identified genetic variants and their classification according to the ACMG (American College of Medical Genetics and Genomics) guidelines, detailing each parameter included as well as relevant publications.<\/p>\n

In genetic reports, the contact details of available PATIENT REGISTRIES\/ASSOCIATIONS<\/a><\/strong> will be provided to the referring doctors, preferably within the country of origin or internationally, so they can share them with patients and their families in accordance with their protocols.<\/p>\n

Unfortunately, the vast majority of NMDs have no cure or treatment; if any do, this information will also be included in the genetic reports. Clinical follow-up of patients is managed by the referring physicians.<\/p>\n<\/div>

*<\/strong>It is important to note that the results presented in these reports are obtained as part of a research study and therefore do not constitute a diagnostic credential. The interpretation and application of these data are the sole responsibility of the referring physicians. The Latin-SEQ team is not responsible for the use of the information contained in these reports.<\/em><\/p>\n<\/div>

*<\/strong>Please note that the analysis and interpretation provided in these reports depend on the correct identification of the samples and the accuracy of the clinical information provided.<\/em><\/p>\n<\/div><\/div><\/div><\/div><\/div>

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Interpretation of Genetic Reports<\/h4><\/span>
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