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. It is included in the Ion Torrent™ CarrierSeq ECS kits, which provide all reagents and materials necessary for a comprehensive, seamless, 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 the detection of carrier-positive samples by research labs interested in maximizing carrier status identification using genomic DNA isolated from blood or saliva samples.

주요 특징 및 장점

• 420개 유전자의 모든 코딩 영역 및 인트론/엑손 경계 타깃팅
• SNV, indel, CNV 캐리어 상태를 NGS로 유전형 분석
• 상동성(paralogues)으로 인해 분석이 어려운 유전자 통합 분석 가능
  • 예: SMN1/SMN2 (척수성 근위축증), GBA/GBAP1 (고셔병), CYP21A2/CYP21A1P (21-하이드록실라제 결핍 선천성 부신과형성증), HBA1/HBA2 (알파 지중해빈혈)

Comprehensive content and consolidated assays

The Ion AmpliSeq CarrierSeq ECS Panel provides comprehensive coverage of common and rare variants to achieve higher per-disorder detection rates.

• Targets >14,000 amplicons covering all coding regions of 420 target genes, including intron/exon boundaries
• Genotypes >28,000 SNVs and indels from the ClinVar archive
• Provides robust CNV analysis to maximize carrier status detection
• Consolidates stand-alone assays for difficult-to-sequence genes into a single NGS assay

사양 (Specifications)