Blueprint Genetics further enhances the clinical utility of its testing offering with a major panel update

October 30, 2021

More than 650 genes have been added to 55 panels across 13 medical specialties. This update takes into account the latest, most relevant scientific findings and customer requests to maximize meaningful results for patients.

The update, effective from October 30, 2021, is the result of a critical evaluation of current scientific literature and published expert guidelines to ensure healthcare providers and their patients have access to the most clinically relevant, up-to-date, and comprehensive gene panels. The added genes were carefully curated, taking into consideration the strength of evidence supporting their clinical significance.

“We are very happy to introduce these key additions that further strengthen the diagnostic capabilities of our panels. For this round of updates, we wanted to really focus on ensuring that patients receive the most informative and actionable results possible. Strong gene-phenotype association was an important criterion for maximizing clinical utility,” said Blueprint Genetics Executive Director of Medical and Laboratory Director, Juha Koskenvuo, MD, PhD.

The comprehensive nature of many panels has been increased by reviewing expert recommendations. For example, 160 genes were added to the Comprehensive Skeletal Dysplasias and Disorders Panel, including almost all which were listed in the 2019 Nosology and Classification of Genetic Skeletal Disorders1. An in depth review of the International Union of Immunological Societies 2019 Update on Human Inborn Errors of Immunity2 also led to an important update to the Primary Immunodeficiency Panel.

In addition to the 55 updated panels, improvements were made to panels used for genetic testing programs, such as the My Retina Tracker Program available in the United States and the Beyond Paediatric Epilepsy Program in Europe and the Middle East.

“We have been working towards boosting the diagnostic yield of panel testing and have already seen great results with the addition of full mitochondrial genome analysis and clinically relevant, deep intronic variants to our panels. With the rapid advances in the field, bioinformatic updates such as this one are critical for ensuring that clinicians have access to the most up-to-date genetic tests,” continued Koskenvuo.

Please find the full list of updated panels and added genes here.

In short

  • The updated panels are available as of October 30, 2021. All orders placed after this date will automatically include the new panel content
  • More than 650 unique genes were added to 55 panels in 13 medical specialties
  • More than 140 new genes that were not previously included in Blueprint Genetics panels have been introduced
  • As before, all of our panels can be customized by adding up to 200 clinically relevant genes or removing genes until a minimum of 2 remain
  • As always, deep intronic variants targeted for each gene are included

If you have any questions regarding the update or how it will affect your order, please don’t hesitate to contact our Client Services team or your local representative. You can also find more information regarding online ordering here.



  1. Mortier GR et al. Nosology and classification of genetic skeletal disorders: 2019 revision. Am J Med Genet A. 2019; 179(12):2393-2419. doi: 10.1002/ajmg.a.61366
  2. Tangye SG et al. Human Inborn Error of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee. J Clin Immunol. 2020; 40(1): 24-64. doi: 10.1007/s10875-019-00737-x

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