New! We now provide mitochondrial genome testing. As part of Flex panels, the entire mitochondrial genome or individual mtDNA genes can now be added on any panel. The mitochondrial genome has also been included on over 30 panels (see Mitochondrial disorders).
All of our >220 gene panels can be customized by adding any of our >4000 clinically relevant genes or by removing genes from the selected panel. Customized panels are called FLEX Panels.
The panels can be customized by:
- Adding up to 200 genes from a list of >4000 clinically relevant genes from any medical specialty related to the patient’s phenotype
- Removing as many genes as desired (until a minimum of one remains)
Customized panels can be saved and named by each user in our online portal Nucleus. All saved panels will be stored in the “My Saved FLEX panels” list for later use. The name of the saved panel will be visible only to the user.
The customization of panels is intended to bring value to the patient’s diagnosis and current clinical presentation/phenotype. The customized test is not intended for carrier testing, predictive testing or general population screening.
Customized panels can only 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. Panel 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 # and/or an * 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. Any changes made to a panel through customization are the responsibility of the ordering clinician.
- If individual mtDNA genes are added to a panel instead of the entire mitochondrial genome, the non-coding region of the mitochondrial genome will not be included, and some deletions might not be detected.
For additional information, please refer to the Test performance section and see our Analytic Validation.
- CAP and ISO-15189 accredited laboratory
- 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
- ~2,000 non-coding disease causing variants are covered by Blueprint, clinical grade NGS 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.