Services > Cytogenetics

Shallow Sequencing

Shallow Whole Genome Sequencing (sWGS) is a high throughput sequencing technology that explores the entire genome to detect chromosomal imbalances (gain/loss). The quantity of fragments analysed for each region of the genome is compared to a reference pool of data obtained from normal samples. The region is considered as altered if the number of fragments is below (loss) or above (gain) the number of fragments in the reference.

Main applications and advantages

  • Possibility to screen the whole genome in an unique analysis
  • Capacity to process large batches of samples
  • Rapid, sensitive and automated technique
  • Resolution uniformity along the whole genome
  • Adapted to genomic DNA, circulating DNA and FFPE derived DNA

Starting material

Blood, cells, amniotic fluid, CVS, miscarriage material (foetal tissue, skin, etc.), DNA.


  • Chromosomal imbalances (gains and losses)·   
  • Resolution: 45kb 


We utilise an Illumina NovaSeq 6000 system.

Doctors and scientists can help you.

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