TruSight Inherited Disease Sequencing Panel

TruSight Inherited Disease是一款专注于552个与隐性遗传的严重儿童期发病疾病相关基因的靶向测序研究panel。

TruSight Inherited Disease Sequencing Panel (48 samples)


TG TruSight Inherited Disease Sequencing Panel (48 Samples)



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


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


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


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


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


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



  • 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.

Frequently Purchased Together



仪器 推荐的样本数 读长
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:约12 Mb基因组内容(约4800个基因)。
TruSight One Expanded:约16.5 Mb基因组内容(约6700个基因)。
575 Kb基因组内容(174个基因)
Description Fixed research panel focused on severe pediatric onset disorders. 固定基因集的panel,专注于具有致病变异的外显子区域。 此款靶向测序研究panel有助于鉴定与17种遗传性心脏病相关的遗传变异。
Input Quantity 50 ng DNA 50 ng DNA 50 ng DNA
Method 靶向DNA测序 , 靶向富集 靶向DNA测序 , 靶向富集 靶向DNA测序 , 靶向富集
Multiplexing Up to 96-plex 多达96重 多达96重
Specialized Sample Types Not FFPE-Compatible Not FFPE-Compatible Not FFPE-Compatible

Method-Specific Workflow Example


Supporting Data and Figures


Related Products

  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.