Improving quality: Blueprint Genetics updates panels and prepares for the launch of mitochondrial DNA testing later this year

October 18, 2019

Blueprint Genetics is adding over 400 genes to 138 panels and introducing an improved clinical-grade Next Generation Sequencing assay for panels, single genes, and variant specific testing. This update includes a number of recently discovered, clinically relevant deep intronic and regulatory variants and will facilitate the introduction of mitochondrial DNA testing to panels by the end of 2019.

The panel updates take into account new disease genes as reported in peer-reviewed literature and relevant databases, in addition to customer requests, to further enhance the clinical utility of the panels. The update will come into effect on October 21, 2019. All panels and single gene tests will be performed using our new assay, a targeted clinical exome that has been customized in-house to include over 4,000 genes and approximately 2,000 clinically relevant, noncoding variants.

“I am very happy about these updates, which will further improve the diagnostic yield of our tests. Our new assay covering over 4,000 genes provides better sequencing coverage (99.86% at depth >20x) and even higher accuracy. These data will demonstrate that our new assay quality exceeds the high standard that we have previously set with our NGS platforms. A longer-term goal of this update is to provide us with the flexibility to easily introduce new targets or features to our offering in the future. Mitochondrial DNA testing, as the latest addition, will be a new, exciting expansion for Blueprint Genetics,” said Blueprint Genetics Laboratory Director Juha Koskenvuo.

With this update, Blueprint Genetics has further boosted its capabilities to detect copy number variants from targeted sequencing data. Using proprietary solutions developed in-house, a 100% sensitivity has been established to detect single-exon-level deletions. Consistent with the company’s commitment to transparency, a comprehensive analytic validation will be available in the coming weeks.

According to Koskenvuo, high resolution CNV detection should be a standard in rare disease genetic diagnostics and healthcare providers should be aware of the quality and performance metrics of CNV detection in order to maximize the diagnostic yield for their patients.

“An average of 5% to 10% of disease-causing variants are CNVs. We are seeing compelling evidence to support this with our in-house data as well as research in the field. The majority of healthcare professionals already choose to include CNVs in their tests. However, if CNV detection is not included or if the technology is not optimized to detect smaller CNVs, a molecular diagnosis may be missed in many patients,” Koskenvuo continued.

Additionally, Blueprint Genetics is expanding its panel customization options. After the update, up to 200 genes from any medical specialty can be added to any panel at no additional cost. Over 4,000 genes will be available for customization. These customized panels can be saved by the user in Blueprint Genetics’ online portal, Nucleus, for use with future patients, adding additional value.

In short

  • Over 400 genes will be added to 138 panels
  • All panels, single genes and variant specific testing will be analyzed with a targeted clinical exome, tailored in-house, which includes over 4,000 genes and over 2,000 clinically relevant, noncoding intronic variants
  • Clinical exome platform has a highly uniform sequencing coverage and depth (99.86% coverage at depth >20x and a mean depth of 143x)
  • The new platform demonstrates market-leading performance with CNVs and difficult-to-sequence genes
  • The number of single genes available for testing is growing from 2,500 to over 3,900

Blueprint Genetics continues to offer high-quality Whole Exome Sequencing (analysis of approximately 20,000 genes) and the option to expand to Whole Exome sequencing from any panel or single gene.

See our updated panels here.

Further information
Juha Koskenvuo, Laboratory Director,
Juulia Simonen, Communication Manager,  tel. +358 50 305 9018,

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