Focusing on severe, recessive pediatric onset diseases.
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.
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.
|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