What is the most common method for diagnosing Prader-Willi Syndrome?

The most common method for diagnosing Prader-Willi Syndrome is chromosomal analysis. This condition is associated with genetic abnormalities, specifically related to the absence of expression of paternal genes in the critical region of chromosome 15. Chromosomal analysis, often conducted through techniques such as methylation testing or fluorescent in situ hybridization (FISH), can identify these genetic defects.

In Prader-Willi Syndrome, the hallmark features often include hypotonia, obesity, developmental delay, and behavioral issues, which can present during clinical observation. However, while clinical observation is important for identifying symptoms and signs that suggest Prader-Willi Syndrome, it is not definitive for diagnosis. Blood tests may also be performed to rule out other conditions but do not specifically diagnose Prader-Willi Syndrome. Similarly, urinalysis is not relevant in the diagnostic process for this genetic disorder, as it does not provide information about the chromosomal abnormalities involved. Hence, chromosomal analysis stands out as the most effective and common diagnostic method for confirming Prader-Willi Syndrome.