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.
| 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 |
| 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 causal 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 |
Coverage uniformity is given for 6 samples with respect to the percentage of targeted regions at varying mean normalized read depths. The 6 samples were prepared and then enriched using the TruSight Rapid Capture Kit along with the TruSight Inherited Disease sequencing panel. Over 95% of bases (> 2.0 Mb) were covered at 0.2x mean coverage for each sample.
Illumina VariantStudio Data Analysis Software
Data Sheet | PDF2 MB
TruSight Inherited Disease Sequencing Panel
Data Sheet | PDF< 1 MB
TruSight Inherited Disease Gene List
product_file | EXCEL< 1 MB
Illumina Experiment Manager User Guide Documentation
TruSight Enrichment DNA Sample Prep Experienced User Card Documentation
TruSight Rapid Capture Kits Support Documentation
TruSight Enrichment DNA Sample Prep Guide Documentation
Custom Protocol Selector
Generates customized, end-to-end instructions
Prepare sequencing libraries for small genomes, PCR amplicons, plasmids, or cDNA in as little as 90 minutes, with a low DNA input requirement.
These expert-defined sequencing research panels target 94 genes and 284 SNPs associated with a predisposition towards various cancers.
TruSight Inherited Disease is a targeted sequencing research panel that focuses on 552 genes associated with severe, recessive pediatric onset diseases.
TruSight Rapid Capture all-in-one kits enable targeted sequencing library preparation and enrichment for up to 96 samples in only 1.5 days.
Targeted, custom RNA research panels optimized for sequencing up to 1200 genomic targets of interest.
Targeted custom research panels optimized for sequencing specific targets or genomic content of interest.
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.
