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Introducing Our New Skeletal Disorders and Joint Problems Panel

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Introducing Our New Skeletal Disorders and Joint Problems Panel

We are excited to announce a new, 258 gene comprehensive sequencing and deletion/duplication panel for Skeletal Disorders and Joint Problems

Genetic skeletal disorders are a clinically and genetically heterogeneous group that impair skeletal and joint function. This makes identifying the genetic cause especially challenging. Overall, genetic skeletal disorders can be divided into 42 groups comprising 436 disorders based on the nosology and classification of genetic skeletal disorders (Bonafe et al. 2015. PubMed ID: 26394607). While useful, the groupings are imperfect due to the inherent overlap in radiological and clinical features of many of these disorders. With this in mind, PreventionGenetics’ comprehensive panel was designed to maximize clinical sensitivity to achieve a molecular diagnosis for patients with clinically suspicious skeletal abnormalities and joint problems. 

Disorders

Disorders covered in this comprehensive panel include, but are not limited to the following conditions: Arthrogryposis, Apert Syndrome, Adams-Oliver Syndrome, Chondrodysplasia Punctata, Cleidocranial Dysostosis, Cranioectodermal Dysplasia, Exostoses , Stickler syndrome, Ehlers-Danlos Syndrome, Larsen Syndrome, Multiple Epiphyseal Dysplasia, Spondylocostal Dysostosis , Spondyloepimetaphyseal Dysplasia , Spondyloepimetaphyseal Dysplasia, Hypophosphatemic Rickets, Klippel-Feil Syndrome, Aarskog Syndrome, Meier-Gorlin Syndrome, Frontonasal Dysplasia, Mandibuloacral Dysplasia, Treacher Collins Syndrome, Miller Syndrome, Floating-Harbor Syndrome, Osteogenesis Imperfecta, Polydactyly/Brachydactyly/Syndactyly, Ellis-van Creveld Syndrome, TP63-related conditions, Van Der Woude Syndrome, FGFR3-related conditions, Craniosynostosis, 3-M Syndrome, Holt-Oram Syndrome, Cornelia de Lange syndrome and Cornelia de Lange –related conditions, Short-Rib Thoracic Dysplasia, SHOX-related conditions, Rubinstein-Taybi Syndrome, and Ulnar-Mammary Syndrome.

Since the Skeletal Disorders and Joint Problems panel is based on whole exome sequencing, this test can be customized, and reflex to any of our other exome-based tests or PGxomeTM is available.

Deletions/Duplications

The majority of the genes in this panel have no or very few large deletions/duplications reported. Our whole exome platform is validated to detect copy number variants, but for some genes (i.e. SHOX, NSD1, NSDHL, TRAPPC2, ARSE, and TRPS1) where deletion/duplication testing detection rates are reported to be relatively high, gene-centric aCGH is available as a supplemental test if desired.

Put us to the test.