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.

 

Read more

Last modified: 05.12.2016

News

Blueprint Genetics strengthens its pharmaceutical expertise with new Chairman Hilde Furberg and by appointing Guido Oelkers as a Senior Advisor

Published on December 5, 2018

Blueprint Genetics has gained worldwide momentum and continued global growth in the field of clinical genetic testing of rare inherited diseases. As one of the fastest growing clinical genetic testing businesses globally, Blueprint Genetics has a customer base spanning more than 40 countries. Today, Blueprint Genetics is proud to announce…

Read more

Subscribe to our newsletter