VHL gene fragment analysis: large inversion detection in <i>Alu</i> region for clinical applications

3 in patients with canonical VHL manifestations and no conventional germline alterations. Validation results matched as expected by achieving 100% concordance. Although clinical diagnosis of VHL is possible in the absence of conclusive pathogenic cause, this report demonstrates bespoke CLIA methodologies are essential for managing hereditary diseases and promoting early symptom detection. Our CLIA assay allows for greater confidence in diagnosis for families dealing with complex structural germline alterations and may aid in future efforts at corrective therapies to ease patient suffering. This work was performed in our CLIA-certified laboratory (CLIA ID # 21D0947274).