PMC Pediatric Solid Tumors Panel examines genes linked to the formation of both malignant and benign tumors in children. The genetic diversity intrinsic to these syndromic and non-syndromic conditions complicates the use of phenotypic presentation as the sole diagnostic criterion. Given the clinical overlap in pediatric solid tumor susceptibility conditions| the application of comprehensive panel testing enables a streamlined assessment of multiple relevant genes for individuals with similar clinical symptoms. It should be noted that some genes included in this panel may also be associated with conditions unrelated to the clinical indication for testing.
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.