What is the best test for diagnosing a monogenic obesity disorder?

Next generation sequencing (NGS) is the best test for diagnosing a monogenic obesity disorder because it allows for the comprehensive analysis of multiple genes associated with obesity simultaneously. Monogenic forms of obesity, which are caused by mutations in single genes, can be effectively identified using NGS, as this technology can sequence all coding regions (exons) of genes associated with obesity, as well as non-coding regions that may play a role in gene regulation.

This method is particularly advantageous because monogenic obesity is relatively rare and can involve various genes, making it impractical to rely on targeted testing for each potential gene one at a time. Instead, NGS provides a more efficient and thorough approach, increasing the chances of accurately diagnosing conditions such as leptin receptor deficiency or pro-opiomelanocortin (POMC) deficiency.

In contrast, other testing methods such as chromosomal microarray focus on larger chromosomal abnormalities and are not designed to detect single-gene mutations effectively. Genome-wide association studies (GWAS) examine common genetic variants across populations and are more suited for polygenic traits rather than specific monogenic disorders. Standard blood tests typically measure biochemical parameters and do not provide direct insights into genetic mutations responsible for monogenic obesity. Therefore,