New panels for genetic testing of a suspected skeletal dysplasia or skeletal disorder

Published on April 25, 2017

New Comprehensive Skeletal Dysplasias and Disorders panel (186 genes) contains the genes from larger Comprehensive Skeletal/Malformation Syndrome Panel that are relevant for a skeletal phenotype and are included in the Nosology and Classification of Genetic Skeletal Disorders 2015 revision. It offers high differential diagnosis power and limits the tested genes to genes that have been associated with skeletal dysplasia and disorders with skeletal involvement.

New Skeletal Dysplasia core panel (107 genes) contains the major genes, such as FGFR3, COL2A1, SLC26A2, COL1A1, COL1A2 responsible for different, typical skeletal dysplasias. These include e.g. achondroplasia, thanatophoric dysplasia, COL2A1 related dysplasias, diastrophic dysplasia and achondrogenesis type 1B, various types of spondylo-metaphyeal dysplasias, various ciliopathies with major skeletal involvement (short rib-polydactyly, asphyxiating thoracic dysplasias and Ellis-van Creveld syndrome), various subtypes of osteogenesis imperfecta, campomelic dysplasia, slender bone dysplasias, multiple epiphyseal dysplasias, chondrodysplasia punctata group of disorders etc. It is more targeted than the Comprehensive Skeletal Dysplasias and Disorders panel, but still large enough to cover potential differential diagnoses for the most common forms of skeletal dysplasias.

New Osteogenesis Imperfecta Core Panel (11 genes) is a targeted panel for genetic diagnostics of patients with clinical suspicion of osteogenesis imperfecta. Thus, it covers the COL1A1 and COL1A2 genes and other genes causing more rare types of OI and includes the IFITM5 c.-14C>T (rs587776916) variant, which practically accounts almost all cases of osteogenesis imperfecta type V (PMID 23240094).

 

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Blueprint Genetics is maximising diagnostic yield by adding all clinically actionable non-coding variants into our Panels

Published on September 13, 2017

Gene Panels have revolutionised clinical diagnostic testing. However, for proportion of patients, sequence information restricted to exons and exon-intron boundaries fails to identify the genetic cause of the disease. Disease-causing non-coding variants may include for example deep intronic variants that create cryptic splice sites that result in aberrant mRNA transcripts.

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