Genomic Testing
Who is Chromosomal Sequencing Analysis (CSA) for?
CSA is a comprehensive genetic testing option that harnesses the power of next-generation sequencing (NGS) to provide a time-
and cost-effective evaluation for children with intellectual disability, congenital abnormalities, and other signs consistent with a genetic syndrome.
The test's integrated reflex system uses NGS data to meet professional guidelines for frontline testing with a seamless transition to whole exome sequencing analysis,
increasing the likelihood of diagnosis from a single specimen.
What is Chromosomal Sequencing Analysis (CSA)?
Average theoretical diagnostic yields using the following references: 1 to 5% for FMR1 repeat expansion [2, 4]; up to 3% with classic cytogenetics [2, 5]; 10- 20% for microarray platforms [2, 4, 6]; 6 - 10% for single genes or targeted multigene panels [4]; and 24 - 49% if whole exome [1, 4].
What to Expect
Comprehensive
Detects all clinically significant CNVs listed in ClinGen
Precision
Uniparental Disomy (UPD)/areas of homozygosity detection by AOH analysis for imprinted regions (5Mb resolution)
WES
Whole Exome Sequencing is included
Repeat Expansion
Fragile X repeat expansion upon request
Automation
Identification of a deletion or duplication in an autosomal recessive gene triggers sequencing analysis of the other copy of the gene automatically
Test Details
Sequencing Methods:
Target Capture NGS
Confirmatory Methods:
Sanger, qPCR, MLPA, rpPCR
Turnaround Time:
5-7 weeks
Parental testing of large copy number variants free of charge