The Achromatopsia Panel examines genes linked to achromatopsia, a condition characterized by poor vision, sensitivity to light, involuntary eye movements, and difficulty perceiving color. These specific genes were chosen based on current scientific information in order to provide a comprehensive analysis for hereditary achromatopsia. Due to the genetic diversity associated with these disorders, relying solely on physical symptoms can be challenging in pinpointing a definitive cause. Therefore, a broad panel test offers a thorough assessment of multiple potential genes based on a single clinical indication. Testing these genes genetically may validate a diagnosis and assist in determining treatment and management strategies. Identifying a variant responsible for the disease can aid in assessing the risk of recurrence and offering genetic counseling. It is important to note that some genes included in this test may be linked to other conditions not covered by this specific panel.
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.