White papers
From sample to diagnosis: Genetic testing with Blueprint Genetics
Jun 16, 2016

Comprehensive, rapid, and high-quality genetic diagnostics solutions

Current state-of-the-art next-generation sequencing (NGS) technology enables rapid and cost-effective diagnostics of rare diseases. Many times genetic testing is the only solution to avoid a never-ending diagnostic odyssey.

About 2% of the genome is actually encoding genes and only a subset of genes are known to be medically relevant. Blueprint Genetics’ sequencing platform focuses on that portion of the genome that is clinically relevant, reducing the complexity of the sequencing process.

High-quality exome capture is performed using an in-house designed WES platform (xGen Exome Research Panel with custom-designed capture probes, IDT) and the Illumina NovaSeq sequencing system to obtain deep and uniform sequencing data from coding exons, exon-intron boundary, and over 1,500 selected noncoding deep intronic variants. Our careful oligo design, validated laboratory process and quality control, clinical-grade sequencing coverage, and proprietary bioinformatic pipeline enable high quality for detecting SNVs, indels, and copy number aberrations. With improved sequencing coverage and sensitivity to detect clinically relevant mutations, we can provide higher diagnostic yield.

From start to finish, the genetic testing process followed by Blueprint Genetics is not only very fast and efficient, it’s also very accurate due to the extreme care and checks performed throughout. The results you get provide reliable answers for both you and your patients.

If you suspect your patient has a specific inherited disorder, genetic testing provides answers to help you determine what’s next on your patient’s care path. Read our white paper to find out how genetic diagnostics is done at Blueprint Genetics.



Last modified: October 29, 2020