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).


Blueprint Genetics

Last modified: 06.28.2017


Difficult-to-sequence genes in ophthalmology: improved sequencing coverage and mapping quality in ORF15 enable unmatched diagnostic yield in XLRP

Published on April 30, 2018

Blueprint Genetics’ updated technology enables improved coverage and sensitivity in clinically relevant and challenging genes such as RPGR and especially the ORF15 region of this gene. Current next generations sequencing (NGS) strategies and standard Sanger sequencing do not adequately cover the RPGR ORF15 region, leading to poor sensitivity and decreased…

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