A new innovative CNV analysis for genetic diagnostics

May 12, 16

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…
How we classify genetic variants when interpreting patients results

Mar 05, 16

In genetic diagnostics, variant classification forms the basis for clinical judgment. Despite the international guidelines and principles, there is still significant inter-laboratory variation in classification of genetic variants. A wrong classification can misguide the clinical judgment in patient care including severe consequences in risk stratification among family members. Blueprint Genetics is dedicated to…
Blueprint Genetics becomes the first laboratory to receive ISO 15189 accreditation for a NGS pipeline from sample arrival to clinical interpretation

Feb 02, 16

Blueprint Genetics is now an ISO 15189 standard accredited No. T292 laboratory. Accreditation is a procedure to recognize an organization’s competence to carry out specific tasks based on internationally agreed criteria. The quality management system at Blueprint Genetics complies with the international ISO 15189 standard, which specifies the quality requirements for medical…

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