TruSight Inherited Disease Sequencing Panel

TruSight Inherited Disease is a targeted sequencing research panel that focuses on 552 genes associated with severe, recessive pediatric onset diseases.Read More...
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TruSight Inherited Disease Sequencing Panel (48 samples)

FC-121-0205

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TG TruSight Inherited Disease Sequencing Panel (48 Samples)

TG-141-1005

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Accessory Products
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TruSight Rapid Capture (1 index, 8 samples, 8 enrichments)

FC-140-1101

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

FC-140-1102

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

FC-140-1103

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

FC-140-1104

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

FC-140-1105

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

FC-140-1106

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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

Project Recommendations

Instrument Recommended Number of Samples Read Length
MiSeq System Samples per run (by reagent kit version): v2: 4, v3: 8 (based on 150x mean coverage of targeted content) Up to 2 × 150 bp
NextSeq 550 System Samples per run: mid output: 48, high output: 96 (based on 150x mean coverage of targeted content) Up to 2 × 150 bp

Product Comparison

TruSight Inherited Disease TruSight One Sequencing Panels TruSight Cardio Sequencing Kit
Content Specifications 2.25 Mb genomic content (552 genes) TruSight One: ~12 Mb genomic content (~4800 genes).
TruSight One Expanded: ~16.5 Mb genomic content (~6700 genes).
575 Kb genomic content (174 genes)
Description Fixed research panel focused on severe pediatric onset disorders. Fixed research panels targeting exonic regions that harbor disease-causing variants. Targeted sequencing research panel to identify somatic variants associated with 17 inherited cardiac conditions.
Input Quantity 50 ng DNA 50 ng DNA 50 ng DNA
Method Target Enrichment , Target Enrichment, Targeted DNA Sequencing Target Enrichment , Target Enrichment, Targeted DNA Sequencing Target Enrichment , Target Enrichment, Targeted DNA Sequencing
Multiplexing Up to 96-plex Up to 96-plex Up to 96-plex
Specialized Sample Types Not FFPE-Compatible Not FFPE-Compatible Not FFPE-Compatible
Species Category Human Human Human

Method-Specific Workflow Example

 

Supporting Data and Figures

 

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.