A new innovative CNV analysis for genetic diagnostics

Published on May 12, 2016

Whole Genome Del/Dup (CNV)

Introducing a new innovative first line genetic diagnostic product for patients with clinical suspicion of large chromosomal abnormalities and microdeletion/microduplication syndromes.

Blueprint Genetics’ utilizes Whole Genome Sequencing combined with a dedicated analysis pipeline to evaluate deletions and duplications (copy number variations, CNVs) in the genome. Our technology has a potential to replace current technologies as CGH arrays and classic karyotype analysis, and thus improve the diagnostic yield of first-line genetic screening of patients with clinical suspicion of large chromosomal abnormalities or any microdeletion/microduplication syndromes. Our technology provides essentially better resolution and is therefore less error prone (no hybridisation biases), and more precise in detection of the boundaries of deletions and duplications.

  • Results in 10 daysWhole Genome Sequencing
  • Low pricing
  • Highest quality
  • Sequencing based method
  • Better resolution than microarray

Clinically significant variants are confirmed with quantitative PCR strategies. The Whole Genome Del/Dup (CNV) test is a first line genetic diagnostic product for patients with clinical suspicion of large chromosomal abnormalities or microdeletion/microduplication syndromes. These are syndromes such as DiGeorge syndrome, Prader–Willi syndrome, Angelman syndrome, Williams syndrome, Rubinstein–Taybi syndrome and Wolf–Hirschhorn syndrome.

 

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We’re hiring a HR Manager in Helsinki!

Published on July 11, 2017

Blueprint Genetics is looking for a highly motivated and skilled HR Manager, to support our growth on our way to becoming a global leader in clinical genetic testing, starting as soon as possible in Helsinki, Finland   Main responsibilities: Managing recruitments and employee-in processes of a rapidly growing company Talent…

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