RenaDx®: Comprehensive Renal Disease Panel

All sequencing technologies have limitations. A negative result from this analysis does not rule out a possible genetic diagnosis as some variants may not be detected by this test. This test is not designed to detect low level mosaicism, structural rearrangements, indels >40bp, deep intronic variants of unknown clinical significance, or large cytogenetic CNVs. Certain inherent qualities of the human genome, for example repetitive regions/homopolymers, GC rich, pseudogenes, and rare polymorphisms, pose significant technical challenges such as sequence misalignment that may potentially impact the accuracy of the results. False negative results may also occur in the setting of allogeneic bone marrow, stem cell transplantation, active or chronic hematologic conditions, recent blood transfusions, suboptimal DNA quality or PCR trace contamination. Other potential sources of error include sample mix-ups and clerical issues.

MUC1 Analysis Disclaimer
MUC1 analysis in the RenaDx panel is performed using the VNtyper/SharkVNtyper bioinformatics pipeline applied to short-read sequencing data, as described by Ilias Bensouna et al. (PMID: 39325540). This approach is intended to screen for pathogenic variants within the MUC1 VNTR region using standard short-read next-generation sequencing data. However, no additional orthogonal confirmatory testing or specialized MUC1-specific assays are performed as part of this assay, including methods described by Richard H. Bleyer and colleagues for dedicated detection of MUC1 VNTR pathogenic variants (e.g., SNaPshot/Snapshot PCR minisequencing or long-read sequencing approaches). Due to the technical complexity and highly repetitive nature of the MUC1 VNTR region, false positive or false negative results may occur. Results should be interpreted in conjunction with clinical findings, family history, and other laboratory data. When clinically indicated, confirmatory testing using specialized orthogonal methodologies may be considered.