What are the recommended referral criteria for genetic testing in suspected cases of Prader-Willi Syndrome?

Recommended referral criteria for genetic testing in suspected cases of Prader-Willi Syndrome (PWS) are not explicitly detailed in the provided UK guideline excerpts.

However, in clinical practice, referral for genetic testing for PWS is generally considered when a patient presents with characteristic clinical features such as hypotonia, feeding difficulties in infancy, developmental delay, hyperphagia leading to obesity, and distinctive facial features. Genetic testing typically involves methylation analysis to detect the absence of paternal gene expression on chromosome 15q11-q13, which is diagnostic for PWS.

Given the absence of specific UK guideline criteria for PWS in the provided context, it is recommended to refer suspected cases to a clinical genetics service for assessment and appropriate genetic testing.