We are pleased to offer customization of all our >220 Sequencing Panels. The customized panels are called Flex Panels. All our panels are sliced from whole exome sequencing data. Panels can be customized by adding any of our >2600 panel genes or by removing genes from the selected panel.
The panels can be customized by:
- Adding up to 20 genes from any of our panel genes, representing all specialty areas
- Removing all genes available (until one gene is left)
- Customized panels always include CNV analysis
The customization of panels is intended to bring value to the patient’s current diagnostics and phenotype(s). Recommended use case for customization is adding a gene into a panel that forms differential diagnostic challenge with the patient’s main phenotype. The customized test is not intended for carrier testing, predictive testing or general population screening.
Customized panels can easily be ordered through our Nucleus ordering portal. Simply choose the panel you wish to order and select the ”Order/Customize in Nucleus” tab from the panel specific page.
Panel customization is free of charge. Pricing is subject to change over time.
The great majority of tests are completed within 28 days.
Panel specific genes with reduced performance are noted with a # or/and * on the panel content pages.
Please note, that customized panels may lead to reduced diagnostic utility and the intended use may change in a case where gene(s) relevant for the patient’s phenotype are removed. Thus, the ordering clinician takes full responsibility of this potential side effect when customizing a panel.
For additional information, please refer to the Test performance section and see our Analytic Validation.
The strengths of this test include:
- CAP and ISO-15189 accreditations cover all operations at Blueprint Genetics including Whole Exome Sequencing, NGS panels, and confirmatory testing
- CLIA-certified personnel perform clinical testing in a CLIA-certified laboratory
- Powerful sequencing technologies, advanced target enrichment methods, and precision bioinformatics pipelines ensure superior analytical performance
- Our Nucleus online portal provides transparent and easy access to quality and performance data at the patient level
- Our publicly available analytic validation demonstrates complete details of test performance
- 1479 non-coding disease causing variants are covered by Blueprint WES assay
- Our rigorous variant classification is based on a modified ACMG variant classification scheme
- Our systematic clinical interpretation workflow uses proprietary software which enables accurate and traceable processing of the NGS data
- Our comprehensive clinical statements
Contact us with any questions. Our client services team, comprised of client service representatives, genetic counseling assistants, and genetic counselors, are happy to assist you with your custom panel questions.