CeGaT’s mission is to apply the best technologies available for genetic testing. In this spirit, we have now moved our exome diagnostics pipeline to the newest and most comprehensive human exome enrichment kit provided by Agilent (SureSelect Human All Exon V7).
Trio (father, mother, affected child) Exome Diagnostics is recommended if:
- the patient’s phenotype is complex and has an early onset
- prior genetic testing, specifically array CGH, turned out negative
- a specific genetic test is not available
- there are multiple or overlapping differential diagnoses
Our Trio Exome Diagnostics pipeline includes a complete and detailed interpretation of genetic alterations with respect to the clinical phenotype. We evaluate and interpret single nucleotide variants (SNVs), small insertions and deletions (INDELs) and copy number variants (CNVs) of single and/or multiple exons. We analyze mitochondrial DNA, loss of heterozygosity and on top of that our pipeline is even able to account for mosaicisms.
Taken together our medical reports are generated and written by a highly educated team of specialists with long standing expertise in human genetics. The latest literature, public and in-house databases are used for the interpretation. Variant classification follows ACMG (American College of Medical Genetics) guidelines. All medical reports are discussed interdisciplinary within our team. Frequently we publish new findings in high ranking journals together with our collaborators worldwide (publications).