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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Last modified: 05.12.2016

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