This panel includes genes known to be associated with Ellis-van Creveld syndrome and Weyers acrofacial dysostosis, two related genetic conditions that affect bone growth, dental development, and other body systems. Features may include short stature, extra fingers or toes, nail and tooth abnormalities, and in some cases, congenital heart defects. Since both conditions are linked to changes in the same genetic pathway, analyzing these genes can help clarify the diagnosis, guide medical care, and support family planning decisions.
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.