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. Read More...
Select Product(s)
Price
Price
 
 

TruSight Inherited Disease Sequencing Panel (48 Samples)

FC-121-0205

TG TruSight Inherited Disease Sequencing Panel (48 Samples)

TG-141-1005

Accessory Products
What accessories do I need?
Price
Price
 
 

TruSight Rapid Capture (1 Index, 8 Samples, 8 Enrichments)

FC-140-1101

Price
 
 

TruSight Rapid Capture (2 indices, 8 samples, 4 enrichments)

FC-140-1102

Price
 
 

TruSight Rapid Capture (4 indices, 16 samples, 4 enrichments)

FC-140-1103

Price
 
 

TruSight Rapid Capture (24 indices, 48 samples, 4 enrichments)

FC-140-1104

Price
 
 

TruSight Rapid Capture (24 indices, 96 samples, 8 enrichments)

FC-140-1105

Price
 
 

TruSight Rapid Capture (96 indices, 288 samples, 24 enrichments)

FC-140-1106

Product Highlights

  • Developed in collaboration with Dr. Stephen Kingsmore and team during his tenure 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.

Specifications

For Research Use Only. Not for use in diagnostic procedures.

Method-Specific Workflow Example(s)

 

Supporting Data and Figures

 

Product Literature

VariantStudio Data Analysis Software

Data Sheet | PDF(2 MB)

TruSight Inherited Disease Gene List

product_file | EXCEL(< 1 MB)

Manuals and Support Information

TruSight Rapid Capture Kits Support Documentation  

Custom Protocol Selector
The Custom Protocol Selector enables you to generate your own customized documentation, specifically tailored to your experiment.

All TruSight Rapid Capture Kits Support 

Related Products

References
  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.