PMC Hereditary Myelodysplastic Syndrome/Leukemia Panel examines genes linked to a hereditary predisposition to hematologic cancers| including myelodysplasia and acute leukemia. Due to the genetic diversity associated with these cancers| relying solely on phenotype can be challenging in determining the underlying cause. With many genes overlapping in leukemia susceptibility| a comprehensive panel test can efficiently evaluate multiple potential genes for individuals with similar clinical symptoms. This test focuses on heritable germline mutations and is not designed for detecting somatic mutations.
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.