There are two main types of autosomal inheritance:<\/p>\n
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Autosomal dominant<\/strong>: one defective copy of a gene is enough to cause a disease (e.g. Huntington's chorea, Marfan syndrome)<\/p>\n<\/li>\n
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Autosomal recessive<\/strong>: a person must carry two copies of a mutated gene for the disease to manifest (e.g., cystic fibrosis, spinal muscular atrophy, phenylketonuria)<\/p>\n<\/li>\n<\/ul>\n
Why is a test for autosomal diseases performed?<\/h2>\n
This test not only allows you to confirm the diagnosis, but also:<\/p>\n
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reveal carriage in a clinically healthy person<\/strong><\/p>\n<\/li>\n
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to evaluate risk of transmitting the disease to children<\/strong><\/p>\n<\/li>\n
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to carry out prenatal diagnosis<\/strong> or embryo testing during IVF<\/strong><\/p>\n<\/li>\n
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build surveillance or treatment strategy<\/strong><\/p>\n<\/li>\n<\/ul>\n
This test is especially important for families where there is cases of rare diseases<\/strong>, for young couples before pregnancy<\/strong> and for patients with unexplained symptoms not explained by the classic clinic<\/strong>. This test could be an important tool for identifying genetic risks in these groups of people. For example, tests for the diagnosis of Crohn's disease<\/a> can help understand the etiology of symptoms and choose the right treatment approach. Timely diagnosis allows you to start therapy in the early stages of the disease, which increases the chances of a successful outcome.<\/p>\n
What diseases can be detected?<\/h2>\n
Depending on the size of the panel, you can explore from 5 to over 400 genetic diseases<\/strong>. The most famous:<\/p>\n
Autosomal recessive:<\/strong><\/p>\n
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![\"DNA](\"https:\/\/medilab.km.ua\/wp-content\/uploads\/2025\/05\/geneticheskij-skrining-vo-vremya-beremennosti-2-1348x900-1.jpg\")
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