Summary
Background: As the importance of genetic testing in primary immunodeficiency (PID) grows, this study aimed to add to the knowledge of genetics of PID by employing advanced sequencing techniques and focusing on difficult-to-sequence gene regions.
Methods: A retrospective review of nearly 2,200 patients suspected of PID, tested using Blueprint Genetics’ next-generation sequencing panels was conducted.
Key Findings: The study revealed a positive result in 14% reports overall, with significant variability across different panels. Notably, the primary immunodeficiency panel yielded 13%, while the severe combined immunodeficiency panel showed a remarkable 47% yield. The chronic granulomatous disease panel achieved a high yield of 46%, despite challenges posed by homologous pseudogenes.
Conclusion: This research underscores the critical role of advanced sequencing technologies and updated genetic panels in improving PID diagnosis. The findings not only enhance our understanding of PIDs, but also provide valuable insights for test providers and clinicians, potentially transforming patient care and risk assessment for families.
Authors:
Anni Niskakoski, Päivi Kokkonen, Inka Saarinen, Margarita Andreevskaya, Janica Djupsjöbacka, Mikko Muona, Lotta Koskinen, Juha Koskenvuo