Introducing Our New Skeletal Disorders and Joint Problems Panel
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We are excited to announce a new, 572 gene comprehensive 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
• 3-M Syndrome
• Aarskog Syndrome
• Adams-Oliver Syndrome and Ulnar-Mammary Syndrome • Apert Syndrome
• Chondrodysplasia Punctata
• Cleidocranial Dysostosis
• Cornelia de Lange syndrome and Cornelia de Lange –related conditions
• Cranioectodermal Dysplasia Craniosynostosis
• Ehlers-Danlos Syndrome
• Ellis-van Creveld Syndrome
• Exostoses  FGFR3-related conditions
• Floating-Harbor Syndrome
• Frontonasal Dysplasia
• Holt-Oram Syndrome
• Hypophosphatemic Rickets
• Klippel-Feil Syndrome
• Larsen Syndrome
• Mandibuloacral Dysplasia
• Meier-Gorlin Syndrome
• Miller Syndrome
• Multiple Epiphyseal Dysplasia
• Osteogenesis Imperfecta
• Polydactyly/Brachydactyly/Syndactyly
• Rubinstein-Taybi Syndrome
• Short-Rib Thoracic Dysplasia
• SHOX-related conditions
• Spondylocostal Dysostosis
• Spondyloepimetaphyseal Dysplasia
• Spondyloepimetaphyseal Dysplasia
• Stickler syndrome
• TP63-related conditions
• Treacher Collins Syndrome
• Van Der Woude 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 PGxome? 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.