The Corneal Dystrophies Panel is a genetic test that analyzes a wide range of genes associated with inherited corneal dystrophies, which can cause symptoms such as cloudy or blurry vision, light sensitivity, eye discomfort, and a sensation of something in the eye. This panel is designed to provide a thorough evaluation of the genetic causes behind these conditions, helping to confirm a diagnosis when symptoms alone are not conclusive. By identifying specific gene variants, the test can support more accurate treatment planning, inform long-term management, and offer valuable insights for genetic counseling and assessing recurrence risk.
Targeted Exome/ Slice Exome (Next Generation Sequencing including Copy Number Variation)
120x
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.