Similar to single nucleotide variants (SNVs) and small insertions and deletions (INDELs), copy number variants (CNVs) can cause the patient’s phenotype. Hence genetic testing without CNV analysis is incomplete and may lead to a negative medical report even though there is a genetic cause. At CeGaT a CNV analysis is an integral part of our Diagnostic Panels; it does not need to be requested, it is included in every Diagnostic Panel. Technically speaking, CeGaT’s CNV analysis is based on a reference map for the expected coverage. This reference map is created from our large in-house database of diagnostic cases. The database comprises a high five-digit number of diagnostic cases. The individual patient sample is compared with this reference map (see figure on the right). Due to the high number of cases in our database, the sensitivity of the CNV analysis is >81% for single exon deletions and >96% for three or more exon deletions. Identified and reported CNVs are validated by MLPA or qPCR.
To ensure best possible diagnostic yield, all our Diagnostic Panels include the analysis of single nucleotide variants (SNVs), small insertions and deletions (INDELs), copy number variants (CNVs), known pathogenic intronic variants and phenotype associated mtDNA hotspots!