ORPHAN DISEASES: ETIOLOGY AND LABORATORY DIAGNOSIS
Abstract
Orphan diseases, also known as rare diseases, represent a diverse group of disorders that individually affect a small proportion of the population but collectively constitute a major global health challenge. The majority of orphan diseases are of genetic origin and are characterized by early onset, chronic progression, diagnostic delay, and limited therapeutic options. Accurate laboratory diagnosis plays a pivotal role in early detection, disease confirmation, and clinical management. This article provides an evidence-based review of the etiology of orphan diseases and discusses contemporary laboratory diagnostic approaches in accordance with American and European medical journal standards.
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