Custom Panel Sequencing

Individual custom panel design and subsequent panel validation

A panel covers a distinct set of regions within the genome, which are sequenced in parallel. Most often these targets are exons of genes. Prior to high-throughput sequencing, a custom set of targets is enriched, and only these will be sequenced. CeGaT has been using this concept in genetic diagnostics since 2009. Based on our longstanding expertise, we offer individual custom panel design and subsequent panel validation.

Advantages of NGS-based Panel Sequencing

  • Very cost effective: high coverage of targets and low percentage of underrepresented areas while reduced amount of required sequencing data
  • Targets can be chosen freely across the genome
  • High specificity of variant identification

Dedicated Support – High Quality Results

When processing your sequencing order, we focus on delivering results with high quality and reliability. Each project is led by a scientific project manager who will be your contact person during the entire project phase. Upon completion of your project, you will receive a detailed project report with further information regarding sample QC, important laboratory parameters, and bioinformatic evaluation and explanations.

Custom Panel Sequencing at a Glance

  • CeGaT assists in target definition based on genes, chromosomal positions, transcripts, and more.
  • Superior balancing of enrichment with CeGaT’s proprietary algorithms
  • Validation possible according to diagnostic-grade, quality-approved standards: CAP and ISO:15189
  • Full validation reporting possible

Start Your Project Now

Please do not hesitate to contact us; we are happy to design an individual concept for your project.

If possible, please provide us with information about sample material, number of samples, and preferred sequencing depth.

Comparison of sequencing coverage of the first four exons of AIPL1 – a gene involved in the etiopathogenesis of hereditary retinopathies. Exonic regions are depicted at the bottom of the figure by thick bars. Thin lines in between symbolize intronic regions. Coverage is represented by grey curves. In exonic regions, coverage is highest in the panel-sequencing approach due to targeted enrichment. Coverage is substantially lower in the whole-exome and whole-genome sequencing approach.

  • Ultra-low input with 20 ng DNA possible

Regular Input

  • DNA:
    • ≥ 500 ng high molecular DNA
    • ≥ 100 ng fragmented DNA
  • DNA Concentration: ≥ 20 ng/μL
  • DNA Volume: ≥ 20 μL
  • Raw data only (FastQ format)
  • Alignment (BAM format)
  • SNP calling and annotation
  • InDel calling and annotation
  • Large homozygous deletions calling
  • Variant comparisons (multiple samples required)
  • Gene comparisons (multiple samples required)
  • Data transfer via download (secure server) or shipping of HDD available

• Sequencing exceeds Illumina specifications: Q30 > 80 %
• Diagnostic-grade quality management routines available

  • Large number of possible sample materials besides DNA, e.g., EDTA blood, saliva, FFPE-tissue, dried blood spot cards, and many more
  • DNA processing of fragmented/degraded DNA
  • Library preparation protocol can be adapted to customer needs
  • Sequencing output is adapted according to desired coverage
  • Processing of individual samples possible
  • Panel design and validation according to diagnostic standards
  • Choose between different custom panel enrichment methods (e.g., Agilent SureSelect)
  • Fully automated library preparation – batch size of 1 sample possible
  • Sequencing on Illumina state-of-the-art sequencers, with paired-end 100 bp (other options possible)
  • Large variety of bioinformatic analysis options
  • Turnaround Time: 2-4 weeks after custom panel validation
  • Complete documentation for validation reports and routine sample processing

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