This panel focuses on genes associated with Cornelia de Lange syndrome and other related conditions involving multiple congenital differences. These disorders can affect growth, development, facial features, limbs, and organ systems. Because symptoms often overlap among different syndromes, pinpointing the exact genetic cause based on appearance alone can be difficult. This panel provides a broad genetic approach by analyzing several genes known to be linked to these conditions. Results can help confirm a diagnosis, guide care decisions, and support family planning and genetic counseling.
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.