{"id":12679,"date":"2026-02-03T16:39:07","date_gmt":"2026-02-03T13:39:07","guid":{"rendered":"https:\/\/nesiller.com\/rare-diseases\/"},"modified":"2026-10-03T18:36:16","modified_gmt":"2026-10-03T15:36:16","slug":"rare-diseases","status":"publish","type":"page","link":"https:\/\/nesiller.com\/en\/rare-diseases\/","title":{"rendered":"Rare Diseases"},"content":{"rendered":"\t\t
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Rare Diseases<\/div>\t\t\t\t<\/div>\n\t\t\t\t
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Rare Disease Panels<\/h1>\t\t\t\t<\/div>\n\t\t\t\t
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Genetic Solutions for Personalized Patient Management<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t

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Approximately 80% of the nearly 8,000 rare diseases described in the literature have a genetic basis. These inherited conditions can affect not only individuals but also their families and future generations, leading to hereditary health disorders and significant clinical risks.<\/p>

Tay-Sachs disease, retinoblastoma, narcolepsy,<\/strong> and Huntington disease<\/strong> are examples of rare diseases.<\/p>

Orphan diseases are conditions for which diagnosis and treatment options may be limited due to their rarity. Although the terms rare disease<\/em> and orphan disease<\/em> are often used interchangeably, not every rare disease is considered an orphan disease. Examples of orphan diseases include Fabry disease<\/strong> and alveolar echinococcosis (alveolar hydatid disease)<\/strong>.<\/p>

Today, genetic testing enables the rapid and accurate molecular diagnosis<\/strong> of these diseases. In addition, preconception carrier screening<\/strong> allows couples’ genetic risks to be assessed, helping to reduce the risk of passing these conditions on to future generations.<\/p>

Genetic testing can help to:<\/p>