The Craniosynostosis Panel examines genes linked to syndromic and nonsyndromic craniosynostosis, where sutures in the skull fuse prematurely. Syndromic forms of the condition come with extra symptoms. These genes were chosen based on the current evidence to offer a comprehensive analysis for inherited craniosynostosis. The diverse genetics can make it challenging to rely solely on symptoms to identify the cause. A broad panel test allows for the efficient assessment of multiple genes with just one clinical indication. Testing these genes can confirm a diagnosis and assist in treatment decisions. Finding a disease-causing variant can help assess the risk of recurrence and provide genetic counseling. Some genes in the test may be linked to other disorders not covered in this 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.