Newest Agilent Enrichment for Exome Diagnostics

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).

For further information please visit here or contact


Massive Update and Re-organization of our Diagnostic Panel for Epilepsy, Metabolic and Brain Development Disorders

In accordance with the latest scientific findings, CeGaT has extensively updated its panel diagnostics for Epilepsy, Metabolic and Brain Development Disorders, now combining all three areas of disease on one gene panel. Our large-panel approach, unique to CeGaT, enables us to sequence all relevant 639 genes, both in parallel and in high-resolution. The new diagnostic panel is sub-divided into 28 gene-sets according to their clinical importance for the single areas of disease. With every update to the panel, currently in its 7th revision, new relevant genes are included in the analysis, reflecting the current state of scientific understanding (lately 265 genes have been included). Constantly, we adjust our technical parameters in order to increase the sequence coverage within clinically relevant areas, with the result that 99,6 % of all 639 genes are very well covered and the mean coverage of the panel is at >750x per base. This enables us to detect rare mosaic variants with high sensitivity.

In case you have any questions on how to proceed with your diagnostic analysis, or if you want to inquire regarding costs for a specific test, contact us anytime.

Please visit our webpage Epilepsy, Metabolic and Brain Development Disorders to learn more about the new Diagnostic Panel.

New Diagnostic Panel for Liver Diseases

CeGaT now offers a comprehensive Diagnostic Panel for hereditary childhood Liver Diseases, which has been designed in collaboration with Dr. med. Ekkehard Sturm, assistant medical director of gastroenterology at the University Children’s Hospital, Tübingen.

Childhood Liver Diseases are relatively rare disorders, and an early and precise diagnosis is of vital importance to enable an effective therapy. The use of molecular genetic analyses within these disorders offers an additional diagnostic opportunity when used in conjunction with an assessment of symptoms, laboratory, and image-guided diagnostics (Sturm und Hörtnagel, Monatszeitschrift Kinderheilkunde May2016, Band 164, S. 448-454).

The panel comprises eight gene sets with 118 genes in total, and offers the rapid and simultaneous analysis of all disease-associated genes known to be causative for hereditary childhood Liver Diseases.

For further information please visit the page for Liver Diseases.

Update and expansion of Diagnostic Panel for Neurodegenerative Diseases

CeGaT has updated its diagnostic panel for neurodegenerative diseases. The number of analyzed genes has been increased from 372 to 553 including the most up to date findings in literature.

For further information on the panel, please visit the webpage for Neurodegenerative Diseases.

CeGaT receives accreditation from the College of American Pathologists (CAP)

CeGaT is now accredited by the College of American Pathologists and meets the highest standards of clinical laboratory and diagnostic practice.

After the successful laboratory inspection by the College of American Pathologists (CAP) in March 2016, CeGaT has received CAP accreditation, and thus complements the existing accreditation according to DIN EN ISO 15189. Both the CAP accreditation and the accreditation according to DIN EN ISO 15189 cover the full diagnostic spectrum of CeGaT, including the next-generation sequencing (NGS)-based analysis methods. Therefore, CeGaT meets worldwide recognized standards in diagnostics which are only shared by a handful of German human genetic laboratories. Since CeGaT’s founding, the company has always been committed to highest quality of its diagnostic services.

Official press release CeGaT (pdf)

View more “About CeGaT“.