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.

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1. Maximized diagnostic potential with the highest performing NGS platform

All our diagnostic tests are performed on a whole exome sequencing (WES) backbone enabling flexibility, regardless of whether you are testing a Single Gene, a Panel or WES.

2. Customizable NGS panels with easy expansion to WES

Customize your panel by adding or removing genes at no additional cost. Expand to Exome from any panel or single gene test. Copy number variant (CNV) analysis is always included.

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.

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