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Skeletal dysplasias include over 350 disorders and have common characteristics including abnormal cartilage or bone growth
with an overall incidence of approximately 1/5000. Severe skeletal dysplasias, such as thanatophoric dysplasia, osteogenesis
imperfecta, achondroplasia and campomelic dysplasia can be detected prenatally by ultrasound, although correctly identifying
the specific disorder is challenging. We designed and validated a multi-gene panel for sequencing genes known to be associated
with severe skeletal dsyplasias. Depending on the disorder, disease prognosis varies from perinatal lethal to a normal life
span. Recurrence risk for the family depends on the mode of inheritance with dominant (and presumed de novo), recessive
and X-linked patterns. Because of this variability, establishing or confirming a diagnosis by molecular means has clinical and
personal utility. The diagnostic efficacy (percent positive for pathogenic or likely pathogenic variants) is >50% for this prenatal
skeletal dysplasia panel. Clinical scenarios illustrating the impact of accurate diagnosis, enabling treating clinicians to inform
families of disease course and recurrence risk, will be presented to demonstrate the utility of this testing.
Elaine Lyon is currently a Professor of Clinical Pathology at the University of Utah, School of Medicine and a Medical Director of Molecular Genetics and Genomics ARUP Laboratories. She has received her PhD in Medical Genetics at the University of Alabama at Birmingham and completed Fellowships in Clinical Molecular Genetics and Molecular Pathology at the University of Utah. She is certified with the American Board of Medical Genetics and a Member of the Association for Molecular Pathology, American Society of Human Genetics, American College of Medical Genetics and the American Association for Clinical Chemistry.