Skeletal dysplasias encompass hundreds of heritable conditions involving abnormalities of cartilage and bone. Suspicion of skeletal dysplasias often results from appreciating a difference in growth patterns or disproportionate short stature, which may be identified prenatally. Identifying a molecular diagnosis for an individual with a skeletal dysplasia can lead to improved clinical care, guide future medical management, and inform familial recurrence. As we leverage high-throughput sequencing technologies for gene discovery, our understanding of the molecular basis of these conditions is expected to continue growing.
During this educational webinar, Clinical Liaison Alicia Scocchia, MS, CGC, will review molecular causes of skeletal dysplasias and discuss genetic testing considerations. We will also share our experience at Blueprint Genetics with diagnostic panel testing for individuals with these conditions. Case examples will be explored highlighting complex clinical presentations and the involvement of copy number variants in diagnostic findings.
- Recognize common molecular causes of skeletal dysplasias
- Describe genetic testing options and testing considerations for clinicians
- Examine the diagnostic yield, most common genes contributing to diagnostic findings, and distribution of variant types reported in a group of individuals receiving panel testing for these conditions
- Identify challenges in comprehensive molecular diagnostics for individuals with suspected skeletal dysplasias
Alicia Scocchia, MS, CGC, LGC, attended graduate school at Sarah Lawrence College (MS in Human Genetics). She previously counseled patients clinically with a focus in oncology and population genomics as well as performed interpretation, reporting, and client support for a clinical whole genome sequencing test intended for patients with rare disease. Currently, she is Clinical Liaison at Blueprint Genetics based in San Diego, CA.
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