PMC Liddle Syndrome Panel is a diagnostic test that is used to identify mutations in genes associated with Liddle syndrome. The panel typically includes the analysis of specific genes encoding for the beta and gamma subunits of the epithelial sodium channel (ENaC) in the kidneys. Mutations in these genes cause increased sodium reabsorption in the Renal tubules| leading to excessive fluid retention| high blood pressure| and low potassium levels.
Targeted Exome/ Slice Exome (Next Generation Sequencing including Copy Number Variation)
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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.