Since 2009 we have been supporting physicians in the diagnosis of their patients. Our genetic panels have the highest detection rates to find causative pathogenic variants.
Did you know? – As part of every NGS analysis, we perform a panel-wide copy number variation (CNV) analysis in order to detect exon/gene deletions and duplications.
Many diseases are caused by the deletion or duplication of exons or whole genes. Consequently, genetic diagnosis is only comprehensive if full CNV analysis is performed.
Our CNV detection algorithm allows us to identify single exon deletions with a sensitivity of >81%. Larger deletions of three or more exons are detected with >96% sensitivity.
Copy number variation is computed using uniquely mapping, non-duplicate, high quality reads using an internally-developed method based on sequencing coverage depth. We use reference samples to create a model of the expected coverage that represents wet-lab biases as well as inter-sample variation. CNV calling is performed by computing the sample’s normalized coverage profile and its deviation against the expected coverage. Genomic regions are called as a copy number variant if they deviate significantly from the expected coverage.
Additionally, we validate our analysis using MLPA or qPCR, once we find deletions or duplications that are associated with the patient’s phenotypes.
The del/dup analysis contributes to CeGaT’s high quality medical reports to provide you with all major analysis options available – without extra fees.
- Shorten the time to diagnosis dramatically.
- Prevent unnecessary examinations and long odysseys of diagnostic procedures.
- Allow personalized treatment options if available.
- Counsel patients and family members with respect to the disease.
- Reduce medical expenses.