Chromosomal Sequencing Analysis (CSA)

From CNV to exome: Integrated genetic testing

This is a reflex option where the initial testing is a 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

The advent of next-generation sequencing (NGS) has revolutionized clinical genetic testing. Empowered by NGS technologies, clinical genetics has transitioned from single gene analysis to multigene panels, exome sequencing and even whole genome sequencing. NGS allows the characterization of copy number and sequence variants at levels of resolution never achieved before, resulting in a remarkable increase in the number of patients receiving a diagnosis.

Quick Facts
  • CSA is a reflex system. It 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.