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Blueprint Genetics
Quality control & transparency

Blueprint Genetics is committed to providing the highest-quality genetic testing for our customers.

First, in order to achieve and demonstrate our testing quality, we have performed a comprehensive and fully traceable analytic validation. The analytic validation includes a description of technologies that are used in the diagnostic process, full disclosure of the publicly available materials and data set used, applied statistical approaches, the exact definition of the target regions, and a complete assessment of the performance metrics for different variant types.

Second, to communicate our testing quality effectively, we provide all relevant data on our website for each individual panel and test type to allow our customers to openly audit our offering. A detailed analytic validation white paper of our experiments and results at our laboratory in Finland can be found here.

Third, our compilation of in-depth quality data in each test report enables the clinician to directly evaluate the test’s performance and have confidence that all actionable information has been provided when deciding the clinical follow-up.

Being fully transparent, Blueprint Genetics is setting a high standard for genetic testing. We invite our customers to join the effort of improving the diagnostics of inherited disorders for the benefit of the patients.


You can read more about the Transparency at Blueprint Genetics by following the links in the table below:


White papers & Guides
Validation of clinical testing
Quality matters
Difficult-to-sequence genes in rare hereditary disorders
Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy
Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients
Prevalence and characteristics of RPGR ORF15 variants in patients with inherited retinal dystrophies
Webinar: Complex Genetic Regions in Clinical Diagnostics
Webinar: Increasing the Clinical Utility of Panel-Based Testing with mtDNA Analysis—a Quality Overview
Podcast: Transparency in genetic diagnostics


Quality Management System

The Quality Management System of Blueprint Genetics is designed to adapt the commonly used principles of effective quality management.

Analytic Validation

Whole exome sequencing (WES)

Analytic validity of our genetic tests has been demonstrated for SNVs, INDELs, as well as CNVs utilizing reference samples with high-quality variant calls and clinical samples.

Results from our Analytic validation can be found under each test page on our website. A detailed analytic validation white paper of our experiments and results at our laboratory in Finland can be found here.

Quality Control

Blueprint Genetics participates in proficiency testing programs, such as CAP and EMQN. In addition, Blueprint Genetics has an internal Quality Control system, which consists of management of facilities, equipment, materials, and software, as well as in-process quality control of methods, examinations, and data analysis. Quality control sample DNA is added to each diagnostic sequencing test and sequence coverage is monitored and evaluated for each sample. Results of the test are accepted if >98% of target regions are covered with at least 20x sequencing depth and the control sample in the sequencing run shows the required sensitivity to detect SNVs (>0.995) and INDELs (>0.950).

Variant Confirmation

The final step in the analysis is orthogonal confirmation. Sequence variants classified as pathogenic, likely pathogenic, and variants of uncertain significance (VUS) are confirmed using bi-directional Sanger sequencing when they do not meet our stringent NGS quality metrics for a true positive call. Reported heterozygous and homo-/hemizygous copy number variations with a size <10 and <3 exons are confirmed by orthogonal methods such as dPCR if the specific CNV has been seen and confirmed less than 3 times at Blueprint Genetics.

Variant Interpretation and Clinical Statement

Blueprint Genetics’ policy for variant classification is based on published ACMG guidelines. Blueprint Genetics delivers comprehensive clinical statements including detailed interpretation of key findings. All of our reports include a summary of the clinical history, a detailed description of the methodology, and a clear summary of the identified, relevant variants following international best practice guidelines (CMGS / ACMG). It also includes carefully weighed interpretation of the genotype-phenotype associations with links to the cited publications and recommendations for family screening. At Blueprint Genetics, we are continuously improving our testing processes to meet your patient’s needs with the most valuable diagnostic service.

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