All our exome analyses automatically include a deletion/ duplication screening using the copy number variation (CNV) analysis – without extra fees.
Not only single nucleotide variants (SNVs) and small insertions and deletions (INDELs) can be causative for a certain phenotype, but also copy number variants. Genetic testing without a screening for deletions and duplications hence is incomplete and may result in incorrect medical reports.
Our CNV analysis in combination with our customized enrichment increases the diagnostic yield substantially.
Our CNV evaluation allows us to detect single exon deletions with a sensitivity of >81%, larger deletions of three or more exons will be detected with >96% sensitivity. Additionally, we validate our analysis using MLPA or qPCR, once we find deletions or duplications that are associated with the patient’s phenotype. The deletion/duplication analysis contributes to CeGaT’s high-quality medical reports to provide you with all major analysis options available.
CeGaT’s analysis strategy enables us to call CNV/SNV combinations in order to provide even more detailed and important information.
Further, we always determine and describe the quality of the CNV analysis within our medical report. We recommend to ship fresh EDTA blood for highest sensitivity of CVN calling.