MAGI labs and diagnosis of rare genetic diseases using NGS
An article published in The EuroBiotech Journal highlights MAGI an organisation for the diagnosis, research and therapy of genetic and especially rare genetic diseases. It has three centres in Italy, another in Albania, and in Siberia. It consists of a medical genetic laboratory and a non-profit branch dedicated to scientific research and training. MAGI is committed to raising awareness and promoting knowledge. If a patient is uninsured or unable to cover the costs, MAGI offers genetic and biochemical testing free of charge on a research basis through its Charity Program.
The development of an NGS service at MAGI Balkans, through the support of a partner, increases the availability of genetic testing in Albania with great advantages for patients and their families. MAGI Balkans recently started focusing on diagnosis and research of rare genetic diseases, offering counselling and genetic testing to Albanian patients. The laboratory uses next-generation sequencing (NGS) technology, which has become cheaper and faster in the last 10 years, to diagnose various genetic disorders. Here the authors report tests performed in collaboration with MAGI Euregio, Italy. The authors described diseases and manifestations which included ichthyosis, familial adenomatous polyposis, diabetes, syndromic craniosynostosis, frontotemporal dementia, fragile X syndrome and ataxia with an overall detection rate of 57%. For 4/7 probands the authors identified a pathogenic or likely pathogenic variant, while for the others, the results did not completely explain the phenotype.