Customization of Diagnostic Panels

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 genes from the single gene list or by removing genes from the selected panel. The Single Gene list contains 2,526 high quality genes with ≥99.5% of base pairs (bp) covered at ≥20x.

The panels can be customized by:

  • Adding up to 20 genes from our single gene list, 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)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.

 

Pricing

Panel customization is free of charge. Pricing is subject to change over time.

 

Turnaround Time

Our standard TAT for diagnostic panels is 3-4 weeks. However, Flex panels (customized) currently may take approximately 2 weeks longer for the analysis.

 

Limitations

Performance data for customized panels is not separately available, due to the high quality of all genes that can be added (99.5% of the target with >20x). 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 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

 

Questions?

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.