PMC Hereditary Hyperparathyroidism Panel examines genes linked to an increased risk of hyperparathyroidism. Due to the genetic diversity of these conditions| relying solely on symptoms can be challenging to pinpoint a definitive cause. With the overlapping symptoms of hyperparathyroidism| a broad panel test allows for a more efficient assessment of multiple 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. This test is specifically for hereditary germline mutations and is not suitable for detecting 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.