PMC Neurofibromatosis (NF1) gene test evaluates various conditions such as neurofibromatosis type 1| neurofibromatosis-Noonan syndrome (NFNS)| and Watson syndrome. Watson syndrome features pulmonic stenosis| cafe-au-lait spots| macrocephaly| intellectual disability| and more. However| this test is not intended to detect somatic mutations in tumor tissue.
PMC NF2 gene test examines heritable mutations associated with NF2-related schwannomatosis. This test is specifically designed to detect germline mutations and is not meant for identifying somatic mutations in tumor tissue.
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.