Introducing a more targeted malformations panel content

March 16, 2018

In March, Blueprint Genetics introduced new improved panels. The updated panels include over 660 added genes selected after careful inspection using most recent literature, variant databases (HGMD and ClinVar), and customer requests.

The updated malformation panels cover a broad spectrum of connective tissue and skeletal disorders. These syndromes can manifest as isolated defects, growth abnormalities, and malformations that are present in the entire body.

Highlights of panel improvements 

Blueprint Genetics has transitioned to a new production environment where all the panels are sliced from custom high-quality whole exome sequencing data. The updated panels introduce improved diagnostic yield and a higher number of clinically relevant genes.

Through a careful review of our collected data and current research literature, a number of new genes have been added to existing panels. For example, in Comprehensive Short Stature Syndrome Panel 27 new genes were added and 13 genes removed, clearly being more syndromic genes. As a result, a more targeted and relevant panel content was achieved.

Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel was launched to provide better clinical targeting for patients with growth restriction or skeletal dysplasia where differential diagnosis between these two disorder categories is difficult. The upgraded panel content has significantly increased the number of relevant genes. For Comprehensive Skeletal Dysplasias and Disorders Panel a total of 601 new genes has been added, raising the amount up to 246 genes. 

Confirming the clinical diagnosis 

Genetic diagnostics provides the necessary information to make confident individualized treatment and management decisions. In many diseases there can be significant phenotypic overlap with other disorders. Genetic diagnosis can confirm or alter the clinical diagnosis. Accurate diagnostics are essential for optimizing the care and disease management.

Moreover, identifying the causative mutation establishes the mode of inheritance within the family, which is essential for well-informed genetic counseling. Additionally, genetic diagnosis can help in family planning.

Get to know our new malformations panels allowing a more targeted approach:

Amelogenesis / Dentinogenesis Imperfecta
Limb Malformations Panel
Cornelia De Lange Panel
Cleft Lip/Palate Panel
Lymphatic Malformations Panel
Vascular Malformations Panel
Multiple Exostoses Panel
Comprehensive Growth Disorders Panel (combining Skeletal Dysplasias and Disorders Panel)

Blueprint Genetics has 40 malformation panels to choose from. Read more here.


1. Am J Med Genet A. 2015 Dec;167A(12):2869-92. Nosology and classification of genetic skeletal disorders: 2015 revision; literature review, customer requests.



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