To what regulation can one refer to for the detection level of Prader-Willi syndrome?

The regulation pertaining to the detection level of Prader-Willi syndrome is CAP regulation CYG.42300. This regulation provides guidelines specific to genetic testing protocols, which include standards for the detection of chromosomal abnormalities and syndromes, such as Prader-Willi syndrome, that are caused by genetic imbalances.

In particular, this standard outlines the requirements for laboratory practices, including the methodologies that can be utilized for identifying genetic conditions. Prader-Willi syndrome results from a deletion or uniparental disomy in the 15q11.2 region, and regulations under CYG.42300 detail the proper techniques and thresholds for testing and validation of results, ensuring that diagnostic laboratories operate with consistent and reliable measures.

This regulation is vital for quality assurance in laboratories conducting cytogenetic testing as it reinforces the need for comprehensive evaluation and the use of best practices in the detection of genetic disorders, thereby helping to ensure accurate diagnosis and patient management.