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

Focused-Panels

Update: CeGaT Panel for Mitochondriopathies

In accordance with the latest scientific findings, we are updating our panel for mitochondriopathies. The number of nuclear-encoded genes examined is extended from 265 to 359. Adding the number of mtDNA-encoded genes, a total of 396 genes is now examined, which can significantly increase the likelihood of identifying the causal variant.

The high sequencing depth of >1.000x of the mtDNA will also be featured in this version, which is important for the detection of heteroplasmies. In the case of nuclear-encoded genes, the average sequencing depth is >500x, sustaining the chance to detect mosaicisms.

In addition to the expansion of the panel, we now also offer 14 smaller, predefined gene sets. These grouped genes, which are associated with specific phenotypes, enable a targeted and cost-effective analysis of the respective disease pattern. Of course, the CeGaT panel for mitochondrial disorders continues to support our large panel approach in which all genes of the panel are sequenced at the same time – making the expansion of the analysis simple in case of negative findings.

The following predefined gene sets are now available: Leigh syndrome, mitochondrial encephalopathy / mitochondrial hepato(encephalotrigeminal)pathy, mitochondrial DNA depletion and deletion syndrome, pyruvate metabolism disorders, combined defect of oxidative phosphorylation (COXPD), complex I – V defect, CoQ10 deficiency and acyl CoA dehydrogenase deficiency, methylglutaconic aciduria, MELAS and MERRF syndrome, progressive external ophthalmoplegia.

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

Panel for Mitochondriopathies

Panel Update: Tumor Diagnostics

In accordance with the latest scientific findings, we are updating our somatic tumor panel. The total number of genes on this panel is now 710, up from 649. The panel now includes mutational load analysis of the tumor and also supports the examination of leukemia and lymphoma.

The current update was designed to enable personalized therapy decisions, determined by an interdisciplinary tumor board, addressing solid tumors, leukemia and lymphoma. We’ve added additional genes that, according to the latest scientific findings, are linked to the development, growth, disease outlook, drug metabolism, and tumor therapy outcome. The examination of selected translocations is now performed in 29 genes.

In addition to the reporting of these treatment-relevant gene changes, we are also expanding our medical reports by reporting the mutation load of the tumor. Data increasingly suggests that tumors with very high mutation load have increased numbers of neo-antigens on the cell surface, and may therefore respond particularly well to immunotherapeutic approaches, such as checkpoint inhibitors.

In the context of genetic counseling, it is also possible to carry out tumor diagnostics by performing a liquid biopsy (blood test). If you would prefer this option, please arrange a personal appointment.

In parallel to these changes, we have also updated our panel for the diagnosis of hereditary tumor diseases by expanding the number of analyzed genes from 110 to a total of 124. Genes associated with increased tumor risk in gastric carcinoma, Cowden’s syndrome, as well as tumors of the central nervous system have been added. Furthermore, several indications already included in the panel have been extended by the addition of the new genes.

Somatic Tumor Panel