The analysis examines deoxyribonucleic acid (DNA) to identify alterations in the FMR1 gene, the gene associated with Fragile X syndrome. This laboratory procedure is essential for confirming a diagnosis of the condition, determining carrier status, and providing insights into potential reproductive risks. A common example involves analyzing a blood sample to count the number of CGG repeats in the FMR1 gene, which indicates the presence and severity of the mutation.
This specific evaluation is critical for families with a history of Fragile X syndrome or related disorders. It offers individuals the opportunity to understand their risk of having affected children, enabling informed decisions regarding family planning. Historically, the identification of Fragile X syndrome relied primarily on clinical observation and karyotyping, which was less precise. The advent of direct DNA analysis has revolutionized the diagnostic process, providing greater accuracy and enabling earlier identification.
