1. Maximized diagnostic potential with the highest performing NGS platform
All our diagnostic tests, regardless of whether you are testing a Single Gene, a Panel or WES, are performed on a high-performing platform enabling flexibility. Comprehensive, publicly available analytic validation of our platform can be found on our website.
2. Customizable NGS panels and high-quality WES
Customize your panel by adding or removing genes. WES Family for improved diagnostic rate. High-resolution copy number variant (CNV) analysis is always included.
3. Exceptional WES performance, with coverage of 99.4% at Depth >20x
Mean sequencing coverage of 174x offers highly uniform sequencing depth across all protein-coding genes.
4. Comprehensive diagnostics including noncoding variants
Clinically relevant, deep intronic variants included.
5. Clear and meaningful clinical report
Our interpretation team goes the extra mile to provide comprehensive variant classification for your patient.
6. Fast, friendly and knowledgeable customer service
Specialized, regionally focused teams available to you when you need them.
7. Easy ordering experience
Ordering a test from us is quick and simple. You can order online using our secure portal, Nucleus, or send us a requisition form by mail. Log in to Nucleus at nucleus.blueprintgenetics.com.
Nucleus allows you to place orders, read and securely share results, as well as connect with other clinicians based on matching rare variants.
8. High-resolution NGS-based CNV detection included
CNVs are an important disease mechanism that should be evaluated in all patients with a suspected inherited disorder, even with a previously normal chromosomal microarray. We offer one of the highest quality sensitivity for detecting CNVs, with >92% sensitivity for single-exon level deletions and 98.6% sensitivity for 5 exon CNVs.