Prader-Willi Syndrome - Methylation Analysis

Clinical Use

Use

The Prader-Willi Syndrome Methylation Analysis evaluates parent-specific imprinting in the critical region on chromosome 15. This analysis can identify over 99% of individuals with Prader-Willi syndrome and 80% of those with Angelman syndrome, assisting in appropriate diagnosis. Characterized by hypotonia, developmental delays, and potential obesity as children, individuals with Prader-Willi syndrome also face cognitive challenges and various health issues. Accurate, timely detection through genetic testing is crucial for managing these conditions effectively and informing appropriate interventions.

Special Instructions

Patients presenting symptoms of PWS or AS, such as hypotonia and developmental delays, should be tested. This assay is critical for effective diagnosis and management. Collection instructions require careful handling and timely shipping to maintain sample integrity. For best results, samples must arrive in the lab as stipulated, adhering to transport conditions which safeguard against environmental factors.

Limitations

While this analysis is highly sensitive, there are rare instances where certain genetic mechanisms may not be detected, particularly in atypical cases. A negative result does not exclude the diagnosis definitively, and follow-up testing may be required. It is advisable to discuss potential results variability with the patient or guardians to ensure informed decisions following test outcomes.

Test Details

New York Approved