Lysosomal Storage Diseases Precision Panel
Lysosomal Storage Diseases (LSD) are a group of dozens of inherited disorders that result from the accumulation of undigested or partially processed macromolecules inside organelles called lysosomes.
Overview
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Lysosomal Storage Diseases (LSD) are a group of dozens of inherited disorders that result from the accumulation of undigested or partially processed macromolecules inside organelles called lysosomes. Lysosomes are responsible for the physiologic turnover and digestion of cell constituents and do so with the help of catabolic enzymes. The accumulation of products inside the lysosomes results in cellular dysfunction and clinical abnormalities. Organomegaly, connective-tissue, ocular pathology and central nervous system dysfunction. It is transmitted in an autosomal recessive pattern.
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The Igenomix Lysosomal Storage Diseases Precision Panel can be used to make an accurate and directed diagnosis as well ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.
Indication
- The Igenomix Lysosomal Storage Diseases Precision Panel is indicated for those patients with a clinical suspicion or diagnosis with or without the following manifestations:
- Intellectual disability
- Delayed physical development
- Seizures
- Facial and bone deformities
- Joint stiffness and pain
- Difficulty breathing
- Vision and hearing difficulties
- Anemia, nosebleeds and easy bleeding or bruising
- Enlarged liver or spleen
Clinical Utility
The clinical utility of this panel is:
- The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.
- Early initiation of treatment with a multidisciplinary team in the form enzyme replacement therapy, substrate reduction therapy, chaperone therapy and nutritional recommendations and frequent consultations to monitor possible complications.
- Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance.
- Improvement of delineation of genotype-phenotype correlation.
References
Platt, F. M., d’Azzo, A., Davidson, B. L., Neufeld, E. F., & Tifft, C. J. (2018). Lysosomal storage diseases. Nature Reviews Disease Primers, 4(1), 1-17. https://doi.org/10.1038/s41572-018-0025-4
Platt, F., Boland, B., & van der Spoel, A. (2012). Lysosomal storage disorders: The cellular impact of lysosomal dysfunction. Journal Of Cell Biology, 199(5), 723-734. doi: 10.1083/jcb.201208152
Marques, A., & Saftig, P. (2019). Lysosomal storage disorders – challenges, concepts and avenues for therapy: beyond rare diseases. Journal of cell science, 132(2), jcs221739. https://doi.org/10.1242/jcs.221739
Platt, F. M., d’Azzo, A., Davidson, B. L., Neufeld, E. F., & Tifft, C. J. (2018). Lysosomal storage diseases. Nature reviews. Disease primers, 4(1), 27. https://doi.org/10.1038/s41572-018-0025-4
Faverio, P., Stainer, A., De Giacomi, F., Gasperini, S., Motta, S., Canonico, F., Pieruzzi, F., Monzani, A., Pesci, A., & Biondi, A. (2019). Molecular Pathways and Respiratory Involvement in Lysosomal Storage Diseases. International journal of molecular sciences, 20(2), 327. https://doi.org/10.3390/ijms20020327
Platt, F. M., Boland, B., & van der Spoel, A. C. (2012). The cell biology of disease: lysosomal storage disorders: the cellular impact of lysosomal dysfunction. The Journal of cell biology, 199(5), 723–734. https://doi.org/10.1083/jcb.201208152
Parenti, G., Andria, G., & Ballabio, A. (2015). Lysosomal storage diseases: from pathophysiology to therapy. Annual review of medicine, 66, 471–486. https://doi.org/10.1146/annurev-med-122313-085916