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>.<\/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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