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TruSight Inherited Disease Sequencing Panel

TruSight Inherited Disease is a targeted sequencing panel that focuses on 552 genes associated with severe, recessive pediatric onset diseases.
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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.

Targets 552 genes, including coding exons, intron-exon boundaries, and regions known to harbor pathogenic mutations.

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TruSight Inherited Disease Sequencing Panel Data Sheet | PDF(< 1 MB)

TruSight Inherited Disease Gene List product_file | EXCEL(< 1 MB)


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