Chromosomal Sequencing Analysis (CSA)

From CNV to exome: Integrated genetic testing

CSA consists of an genome-wide search for multi-gene deletions and duplications. If this phase is non-diagnostic, whole exome sequencing with deletion/ duplication analysis  (2-exon resolution) is performed.

  • Detects all clinically significant CNVs in ClinGen
  • UPD detection by AOH analysis for imprinted regions (5Mb resolution)
  • Whole Exome sequencing is included
  • Fragile X repeat expansion upon request

Sequencing Methods: NGS
Orthogonal Methods: Sanger, qPCR, MLPA, rpPCR
Turnaround Time: 5-7 weeks

We aim to narrow the gap between the appearance of symptoms and the arrival of a diagnosis by offering a novel
comprehensive genetic testing options designed for the evaluation of children with intellectual disability, congenital abnormalities, and other signs consistent with a genetic syndrome. Our Chromosomal Sequencing Analysis maximizes both diagnostic yield and clinical efficiency by integrating multiple tests into onepackage.

Quick Facts

  • CSA includes the analysis of large copy number variants, exon level copy number variants, FMR1
    expansions, areas of homozygosity, and sequence analysis of phenotype-associated genes.
  • Turn-around time:
– CNV analysis + FMR1 repeat expansion: 2 to 4 weeks
– CNV analysis + FMR1 repeat expansion + Multigene panel (client’s choice) 3 to 5 weeks
– CNV analysis + FMR1 repeat expansion + Exome analysis 5 to 7 weeks
  • Copy number variants sensitivity: ≥ 1 gene; down to ≥ 2 exons if a detailed clinical note is provided
  • Confirmatory testing by qPCR or MLPA
  • UPD/Areas of Homozygosity: 5 Mb resolution
  • Parental testing of large copy number variants is included without additional fee.
  • Identification of a deletion or a duplication in an autosomal recessive gene triggers sequence analysis of the
    other allele without additional fee.