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
Methods: Chromosomal microarray
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 one package.
- 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.