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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Full transparency sets a new standard for quality

Published on July 21, 2017

Blueprint Genetics is committed to provide the highest quality genetic testing for our customers. Since quality is something that can be proven, we are proud to transparently share our full set of quality metrics with you. To be able to show the different aspects of quality in genetic testing, we…

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