Did you know? We include a copy number variation (deletion/duplication) analysis in every diagnostic panel.

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.

Please find more information on our diagnostic panels here, or contact our dedicated support via sales@cegat.de.

Panel Update: Hereditary Kidney Disease Diagnostic Panel

We have updated our panel for kidney diseases according to new scientific findings. In total, more than 100 new genes have been included, so additional differential diagnostic options are now available. This increases the likelihood of finding the causal variant for many hereditary kidney diseases.

The expansion of the total number of analyzed genes results in several improvements which affect the already existing specialized gene sets:

  • In the new version, the gene set for cystic kidney disease (KID02) will be expanded by genes which reflect the recessive inheritance. Furthermore, we now offer clearer predefined options for PKD1 / PKD2 diagnostics:
    • KID02 complete – including PKD1 / PKD2,
    • KID02 without PKD1 / PKD2,
    • PKD1 / PKD2 alone, without the other genes in the gene set.
  • The Alport syndrome (KID07) gene set has been extended to allow a differential diagnosis of thin basement membrane type nephropathies.
  • For the Bartter syndrome (KID10) gene set, the number of genes analyzed was increased from 8 to 17. Which means further differential diagnoses are now possible, particularly for hypomagnesemia.

Furthermore, we are launching KID16, a completely new gene set for primary heritable aminoaciduria. This set contains 8 genes and is now an integral part of the hereditary kidney disease panel.

For further information about the changes to the panel, please contact our diagnostic support team (diagnostic-support@cegat.de). The updated hereditary kidney disease panel is available now and can be ordered here.

New: Focus panels for cost effective genetic analysis for well characterized clinical pictures

CeGaT now provides sequencing analysis of distinct gene sets (focus panels) for the genetic clarification of well-defined clinical diagnoses. Each new focus panel contains a specific selection of genes. The focus panel analysis therefore represents a cost effective alternative to the large diagnostic panels in cases with clear and characterized disorders. The genes of the respective focus panels are sequenced and interpreted in parallel which allows for fast processing times.

The new focus panels cover a variety of different genetic disorders across several medical fields and, for some disease classifications, they broaden the existing CeGaT large panel portfolio. For example, from now on mutations in genes associated with glucose metabolism may be analyzed, therefore providing a reliable MODY (Maturity Onset Diabetes of the Young) syndrome diagnostic test. Furthermore, CeGaT now substitutes the previous multi-stage Sanger diagnostic process for Hereditary haemorrhagic telangiectasia (HHT) or Afibrinogenemia/Dysfibrinogenemia with the faster, and more cost effective NGS based focus panel analysis.

CeGaT now provides focus panels for the following diseases:
Afibrinogenemia/Dysfibrinogenemia, Common variable immune deficiency, Tuberous sclerosis, Hereditary breast and ovarian cancer (small), Hereditary breast and ovarian cancer (large), Lynch syndrome, Hereditary hemorrhagic telangiectasia (HHT), Neurofibromatosis, Hyperekplexia, Holoprosencephaly, Refsum disease, Episodic ataxia, Dopa-responsive dystonia, Neuropathic pain syndromes, Malignant hyperthermia, Familial intrahepatic cholestasis, Maple syrup urine disease, Maturity onset diabetes of the young (MODY), Kabuki syndrome and Craniosynostoses.

View focus panels

Update: CeGaT-Panel for Epilepsy, Metabolic and Brain Development Disorders

We have updated our panel for epilepsy, metabolic, and brain development disorders, according to recent scientific findings. The update adds over 90 new genes to this panel. The gene sets for epilepsy and developmental delay (EPI02) and for macrocephaly (BRN04) benefit most from the changes and now comprise 97 and 55 genes, respectively. For the macrocephaly gene set, in particular, genes linked with macrocephaly-associated RASopathies have been included.

In addition to the extension of many gene sets, the following have been newly added:
– Coffin-Siris syndrome (BRN12)
– Maturity-onset diabetes of the young (MODY) (MET13)
– Fatty acid oxidation disorders (MET15)

The gene set for Joubert syndrome (BRN07) is no longer part of this panel, but offered as part of the panel for eye diseases (EYE07). Since the introduction of the first version of this diagnostic panel in May 2010, the number of investigated genes has increased twelvefold and now comprises 670 genes. We are pleased to have made important contributions to patient management and to inform clinicians on the appropriate treatment selection for thousands of patients. Through this latest update, we continue our large panel approach and enable an even greater likelihood of detecting causal variants.

The panel, which is now in the 8th version, is available immediately. Our diagnostics support team is available at +49 7071 565 44 55 or diagnostic-support@cegat.de.

Panel for Epilepsy, Metabolic and Brain Development Disorders

CeGaT has developed a new Focused-Panel for the diagnosis of suspected Maturity Onset Diabetes of the Young (MODY)

CeGaT now provides a new Focused-Panel for the diagnosis of suspected MODY-(Maturity Onset Diabetes of the Young) syndrome.

MODY is an autosomal dominant form of diabetes caused by large-effect mutations in the MODY associated genes. Intrinsic β-cell defects and malfunction of insulin secretion or glucose metabolism are key features of disease. It is estimated that about 2-5% ¹ of all diabetes cases are caused by monogenic mutations within MODY associated genes, and are therefore part of the MODY spectrum. However, MODY can be misclassified as type 1 or type 2 diabetes, often leading to inadequate therapy choices.

Diagnostic analysis of MODY should be considered in children or adolescents after ruling out type 1 diabetes, due to an absence of islet cell autoantibodies, or when a family history of diabetes exists. Additionally, about 2% of diagnosed gestational diabetes cases are misclassified MODY ², therefore we also recommend MODY Focused-Panel analysis in these cases.

The CeGaT Focused-Panel includes fast and parallel sequencing of 12 genes associated with MODY. The detection of disease causing genetic alteration is the only way to verify the diagnosis of MODY and to clarify an appropriate therapeutic approach.

The new panel is now available. Our diagnostics support team is available at +49 7071 565 44 55 or diagnostic-support@cegat.de.

¹ Valerie M Schwitzgebel; JDI 2014; Many faces of monogenic diabetes
² S3-Leitlinie der Fachgesellschaften DDG und DGGG zum Gestationsdiabetes