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.

Contact BION Genetic Laboratory

From panels to single genes, we are here via phone, web chat, and email to assist in ordering, tracking and checking the status of your tests. We are here to help.