PMC Fanconi Anemia Panel examines genes related to Fanconi anemia (FA). The genes tested may also be linked to other disorders not related to the clinical indication for testing. This test is specifically designed for heritable germline mutations and is not suitable for detecting somatic mutations.
If the patient has had an allogeneic bone marrow or stem cell transplant before genetic testing| or currently has a hematological condition with actively circulating tumor cells| testing of a sample type like cultured fibroblasts from a skin biopsy is recommended.
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.