This panel tests multiple genes linked to chondrodysplasia punctata, a group of rare genetic conditions that affect bone and cartilage development. Variations in these genes can cause issues like abnormal bone growth, joint stiffness, distinct facial features, and sometimes eye or skin changes. Genetic testing with this panel helps identify the underlying cause, supports an accurate diagnosis, and guides medical care.
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.