8 things to consider when choosing genetic testing for your patient
WES backbone enables flexibility
All of our diagnostic tests are on a high quality whole exome sequencing (WES) platform to provide you with maximized diagnostic potential. You get both quality and flexibility, regardless of whether you are testing a single gene, a panel or WES.
We can support your patient’s diagnostic journey by offering a wide range of clinician-friendly services including panel customization, expanding to exome, and re-analysis of WES data.
3. Exceptional 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 non-coding variants
Approximately 15% of disease-causing variants are located within intronic sequences.
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 best-in-class sensitivity for detecting CNVs, with >92% sensitivity for single-exon level deletions and >99% sensitivity for 5 exon CNVs.