"Illumina/TruSight Inherited Disease Sequencing Panel (48 samples)/FC-121-0205/1 Ea

" FC-121-0205 Illumina 產品編號： FC-121-0205美  元  價： $0.00會  員  價： 待定品       牌： Illumina產       地： 美國公       司： Illumina, Inc.產品分類： 其它>其它試劑>芯片公司分類： Clinical Research Products "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:

Input Quantity 50 ng DNA

System Compatibility MiSeq,NextSeq 550,MiSeqDx in Research Mode,MiniSeq,NextSeq 500,HiSeq 2500

Variant Class Single Nucleotide Polymorphisms (SNPs),Germline Variants

Specialized Sample Types Low Input

Technology Sequencing

Species Category Human

Method Targeted DNA Sequencing

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