The Congenital Stationary Night Blindness Panel focuses on genes associated with inherited forms of night blindness that are present from birth and typically remain stable over time. People with this condition may have difficulty seeing in low light, take longer to adjust to darkness, experience involuntary eye movements, and show sensitivity to bright light or reduced visual clarity. Because many different genes can cause similar symptoms, this panel offers a broad approach to identifying the underlying genetic cause. Results can support diagnosis, guide care, and provide useful information for families regarding future risk and long-term management.
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.