Thermo Fisher Scientific Ion AmpliSeq CarrierSeq ECS Panel

Ion AmpliSeq CarrierSeq ECS Panel

The Ion AmpliSeq CarrierSeq ECS Panel enables detection of single nucleotide variants (SNVs), insertion/deletions (indels), and copy number variants (CNVs) associated with 418 inherited disorders in a single assay.
Included in the Ion Torrent CarrierSeq ECS kits, this panel provides all reagents and materials necessary for a comprehensive and flexible next-generation sequencing (NGS) workflow for expanded carrier screening (ECS).

When used with an Ion GeneStudio S5 System, the kits enable a simple, end-to-end workflow for detecting carrier-positive samples using genomic DNA isolated from blood or saliva.

주요 특징

• 420개 유전자의 코딩 영역 및 인트론/엑손 경계 타깃
• SNV, indel, CNV 캐리어 상태를 NGS로 분석하여 검출률 향상
• 유사 유전자 및 가짜 유전자로 인해 분석이 어려운 유전자의 통합 검출
  • SMN1/SMN2 (척수성 근위축증)
  • GBA/GBAP1 (고셔병)
  • CYP21A2/CYP21A1P (21-하이드록실레이스 결핍 선천성 부신과형증)
  • HBA1/HBA2 (알파 지중해빈혈)

Comprehensive Content and Consolidated Assays

The panel provides comprehensive coverage of common and rare variants to achieve higher detection rates per disorder.
It targets >14,000 amplicons covering all coding regions of 420 genes, including intron/exon boundaries, to genotype more than 28,000 SNVs and indels from the ClinVar archive.
Robust CNV analysis capability maximizes carrier status detection.
The panel consolidates stand-alone assays for difficult-to-sequence genes such as SMN1, GBA, CYP21A2, HBA1, and HBA2 into a single NGS assay.

제품 사양