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Whole Exome Sequencing (WES)

For a broader clinical utility including non-coding pathogenic variants.

Enhance whole exome sequencing with copy number variation (CNV) analysis

Uses an enhanced clinical-grade exome capture panel designed to maximize diagnostic yield across rare disease, germline cancer, and carrier screening applications. It builds upon the Twist Human Comprehensive Exome by retaining full coverage of protein-coding regions (RefSeq, CCDS, GENCODE) and adding curated non-coding content for improved clinical sensitivity. Our WES CNV solution is specifically designed to strengthen genome‑wide CNV detection by integrating intergenic and intronic regions through probes targeting highly polymorphic SNPs distributed across the genome. This enhanced backbone enables reliable identification of clinically relevant deletions and duplications down to 25 kb in size—events that conventional exome sequencing approaches may fail to capture.

Target Size

~36.8 Mb of exonic content plus curated intronic pathogenic sites

  • AI-enhanced aneuploidy detection
  • Better embryo selection
  • Lower miscarriage risk

Coverage

All coding exons from RefSeq, CCDS, and GENCODE.

  • Custom assay design
  • Mutation-specific testing
  • Prevents inherited conditions

Enhanced Content

Includes pathogenic and likely pathogenic intronic variants from ClinVar.

  • Detects unbalanced rearrangements
  • Improves viability
  • Reduces miscarriage risk

Clinical Utility

Enables detection of both coding and select non-coding variants with known clinical relevance.

  • Tissue compatibility matching
  • Used for “saviour sibling” care
  • Performed with PGT-A/M

Use Case

Recommended for rare disease diagnostics, germline cancer panels, and high-sensitivity carrier screening.

  • Detects triploidies
  • uniparental disomy (UPD)

Performance

High uniformity, low duplication rates, optimized for hybrid capture workflows.

  • Confirms 0/2/3 PN
  • Ensures accurate tracking
  • Eliminates the risk of sample mix-up

Mitochondrial Seq

Embryo parental check ensures accurate matching of embryos to intended parents before genetic testing.

  • Safeguards identity
  • Confirms lineage
  • Maintains the integrity of the PGT process

CNV Backbone Spike-in Panels

Empowers robust CNV analysis even in exome-focused workflows, unlocking detection of clinically relevant deletions and duplications down to 25 kb that may otherwise be missed.

  • Enhance whole exome sequencing with copy number variation (CNV) analysis
  • Takes 4 weeks
  • Parental blood samples are used

How PGT Works

All PGT types follow a structured workflow supporting both clinicians and patients:

Considerations & Limitations

While highly informative, PGT has certain limitations and contextual factors:

Interested in PGT testing?

Speak with our technical team to determine the most suitable PGT option.

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