The Facial Dysostosis and Frontonasal Dysplasia Panel examines genes linked to facial dysostosis and similar disorders. These disorders are diverse genetically and primarily affect the structure of the face and skull. Due to the genetic variety, using physical traits alone to identify the cause can be challenging. The comprehensive panel test assesses multiple genes efficiently based on a single clinical sign. Some genes in this test may also 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.