PMC Panel for Hereditary Amyotrophic Lateral Sclerosis| Frontotemporal Dementia| and Alzheimer Disease examines genes linked to progressive neurodegenerative conditions of the nervous system such as ALS| FTD| and Alzheimers. Due to overlapping clinical features of hereditary susceptibility conditions| utilizing a comprehensive panel test enables a thorough evaluation of potential genes for individuals with similar clinical symptoms. Some genes included in this panel may also be associated with conditions unrelated to the clinical indication for testing.
PMC Amyotrophic Lateral Sclerosis (ALS) Panel does not cover C9orf72 gene| which is a common genetic cause of ALS and frontotemporal dementia (FTD). You may consider other PMC panels including C9orf72 gene.
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.