TruSight Inherited Disease

Focusing on severe, recessive pediatric onset diseases.

  • Developed in collaboration with Dr. Stephen Kingsmore and team at Children's Mercy Hospital (CMH) for Pediatric Genomic Medicine, Dr. Carol Saunders at CMH, and Dr. Hilger Ropers at the Max Planck Institute
  • Targets 552 genes, including coding exons, intron-exon boundaries, and regions known to harbor pathogenic mutations 

TruSight Inherited Disease was initially based on a 448 disease panel designed for preconception carrier testing for severe, recessive childhood diseases published by Dr. Kingsmore and team in Science Translational Medicine1. The original content was revised by Dr. Saunders, FACMG, at CMH (following ACMG guidelines for testing ultra-rare genetic diseases) to reflect the needs of medical geneticists with a primary focus on severe recessive diseases with childhood onset. Intellectual disability genes were added by Dr. Ropers.

The TruSight Inherited Disease sequencing panel set includes custom oligos targeting identified regions of interest. Sufficient product is supplied for four enrichment reactions. TruSight Inherited Disease is compatible with the MiniSeq, MiSeq, NextSeq, and HiSeq sequencing systems.

For Research Use Only.


  1. Saunders CJ, Miller NA, Soden SE, Dinwiddie DL, Noll A, et al. (2012) Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units. Sci Transl Med. 4: 154ra135.  

Note regarding biomarker patents and other patents unique to specific uses of products:
Some genomic variants, including some nucleic acid sequences, and their use in specific applications may be protected by patents. Customers are advised to determine whether they are required to obtain licenses from the party that owns or controls such patents in order to use the product in customer's specific application.

Product Literature

Description Document Type File Info
TruSight Inherited Disease Gene List product_file EXCEL< 1 MB
Illumina VariantStudio Data Analysis Software Data Sheet PDF2 MB
TruSight Inherited Disease Sequencing Panel Data Sheet PDF< 1 MB

Catalog IDs: FC-121-0205