Cost-Effective Molecular Methods vs. Whole Exome Sequencing (WES) for Genetic Disease Diagnosis: A Practical Guide for the Iranian Clinical Laboratory

The advent of Whole Exome Sequencing (WES) has revolutionized the diagnosis of genetic disorders. However, in Iran, where healthcare costs are largely borne by patients or insurance systems with limited genomic coverage, WES remains prohibitively expensive (approximately ۳۰-۵۰ million Tomans or more). This review compares cheap, accessible molecular techniques (ARMS-PCR, RT-PCR, MLPA, Sanger sequencing) against WES. We provide a practical flowchart for Iranian clinicians and lab managers, answering the critical question: When is WES truly necessary, and how can we diagnose ۸۰-۹۰% of genetic cases using low-cost methods