Update of the Diagnostics Panel for Connective Tissue Diseases: New diagnostics for VISS syndrome and expanded diagnostics for cutis laxa and familial TAAD

The Diagnostic Panel for Connective Tissue Diseases has been revised according to the latest medical findings and expanded by 7 genes. In the update, a new phenotype and two new subtypes of already known phenotypes were included based on the Online Mendelian Inheritance in Man (OMIM) database.

The updated Panel for Connective Tissue Diseases includes 60 genes organized into two gene sets. The newly added genes make it possible to examine one additional clinical phenotype and two additional subtypes of already known clinical phenotypes and to confirm the diagnosis of the following diseases:

  • VISS syndrome
  • Cutis laxa, autosomal recessive, type IIE
  • Familial TAAD

Connective tissue is the sustaining tissue of all organs. For this reason, hereditary connective tissue diseases can manifest themselves differently. They centrally affect the blood vessels and the joints. Therefore, a genetic analysis is crucial to clarify a possible vascular involvement and thus important for further clinical decisions.

Since hereditary connective tissue diseases are often difficult to distinguish phenotypically, CeGaT’s gene set for connective tissue diseases is ideally suited to confirm the diagnosis for your patients. In addition to Cutis laxa and Ehlers-Danlos syndrome, other hereditary connective tissue diseases such as Marfan syndrome and Loeys-Dietz syndrome and genetic causes of thoracic aortic aneurysms are also clarified in this gene set. Benefit from our comprehensive differential diagnostics for your patients.

The updated panel can be requested here.

We will be happy to assist you in selecting the best diagnostic strategy for your patients. Simply call us at 07071 565 44 55 or contact us by mail at diagnostic-support@cegat.de.

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The Diagnostic Panel for Metabolic Diseases and Mitochondriopathies has been updated and expanded

To increase clinical usability, the composition of the gene sets for the diagnosis of mitochondriopathies has been revised. Six new hereditary metabolic disorders can now be diagnosed using their own gene sets.

The new Panel for Metabolic Diseases and Mitochodriopathies includes five gene sets for mitochondriopathies and 16 gene sets to diagnose various metabolic disorders. In total, the panel now contains 543 genes.

The gene sets for mitochondriopathies have been updated to the following:

  • The gene set for nuclear-encoded mitochondriopathies (MIT-02) was revised based on the latest scientific findings and extended by 31 genes.
  • Chronic progressive external microphthalmias (MIT-09) can now be requested as a separate gene set.

For a precise determination of the plasma degree, the mitochondrial genome analysis (MIT-01) is performed via the SNaPshot procedure (unless NGS data are generated).

Five additional gene sets for non-primary mitochondrial metabolic disorders can now be used for precise diagnoses of the following inherited metabolic diseases:

  • Molybdenum Cofactor Deficiency (MET-16).
  • Cerebral folate deficiency (MET-17)
  • Porphyria (MET-18)
  • Other/Further peroxisomal disorders (MET-19)
  • Disorders of intracellular cobalamin (vitamin B12) metabolism (MET-20)

The gene set for hyperinsulinemic hypoglycemia has been replaced by the gene set for congenital hyperinsulinism (MET-12) and expanded by eight genes. In addition, many other, often very rare, hereditary metabolic diseases can be investigated upon request. We also analyze and interpret unlisted entities or individually assembled genes for you. For the selection of individual sets, we recommend using the IEMbase (Inborn Errors of Metabolism Knowledgebase).

We will gladly assist you in selecting the best diagnostic strategy for your patients. Just call us at +49 7071 565 44 55 or contact us by mail at diagnostic@cegat.de.

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Update and Extension of the Panel for Epilepsy and Brain Development Disorders

According to the latest clinical findings, we updated and expanded our Diagnostic Panel for Epilepsy and Brain Development Disorders. As part of the update, the composition and structural design of the panel have been revised to differentiate the clinical pictures covered and continue to increase their diagnostic sensitivity.

The following gene sets can now be requested separately:

  • Primary microcephaly and differential diagnoses (BRN-01).
  • Pontocerebellar hypoplasia (BRN-14)
  • Progressive myoclonus epilepsy (EPI-05)
  • Neuronal ceroid lipofuscinosis (EPI-06)

A lot of epilepsy and brain development disorders are caused by genetic defects. A precise diagnosis helps you identify disease associated risks and initiate appropriate preventive examinations. CeGaT’s Diagnostic Panel for Epilepsy and Brain Development Disorders includes 577 genes organized into 18 different gene sets. We interpret all genes associated with your patient’s phenotype. You can request any of our gene sets individually or in combination with other gene sets. To give you the highest diagnostic flexibility, you can also select an individual combination of genes.

The new Diagnostic Panel for Epilepsy and Brain Development Disorders is based on CeGaT ExomeXtra®, which we developed to generate the best sequencing data for genetic diagnostics. Since CeGaT ExomeXtra® covers all known pathogenic intronic and intergenic variants in addition to all protein-coding regions, it provides an excellent basis for genetic diagnostics.

We believe that all patients should receive the best possible diagnostics. Therefore, as standard in our panels, we screen for single nucleotide variants (SNVs) and copy number variants (CNVs), and check for mosaicisms. If necessary, we validate pathogenic deletions or duplications by MLPA or qPCR before issuing the report. The highest quality is our standard.

For further information on the panel, please get in touch with us at sales@cegat.de.

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Update and Extension of the Panel for Skin Diseases

As part of the continuous development of our diagnostic panels, we have updated and extended the Diagnostic Panel for Skin Diseases according to the latest medical findings. The hereditary skin diseases cutis laxa and hereditary angioedema are now separate gene sets and can be requested individually.

Genetic defects cause many dermatological diseases. A precise diagnosis helps you to identify risks associated with the disease and to initiate appropriate preventive examinations. CeGaT’s Diagnostic Panel for Skin Diseases includes 266 genes organized into 14 different gene sets. We interpret all genes associated with your patient’s phenotype. You can request any of our gene sets individually or in combination with other gene sets. To give you the highest diagnostic flexibility, you can also select an individual combination of genes.

The new Diagnostic Panel for Skin Diseases is based on CeGaT ExomeXtra®, which we developed to generate the best sequencing data for genetic diagnostics. Since CeGaT ExomeXtra® covers all known pathogenic intronic and intergenic variants in addition to all protein-coding regions, it provides an excellent basis for genetic diagnostics. In addition, deletions and duplications are detected.

We believe that all patients should receive the best possible diagnostics. Therefore, we screen for single nucleotide variants (SNVs) and copy number variants (CNVs) as standard in our panels and check for mosaicisms. If necessary, we validate pathogenic deletions or duplications by MLPA or qPCR before issuing the report. The highest quality is our standard.

The new panel can be requested here.

For further information on the panel, please contact us at sales@cegat.de.

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CeGaT Updates Panel for Immune Disorders

We have updated our diagnostic Panel for Immune Disorders according to the latest scientific standards. With this, we will be able to clarify even more cases of rare primary immune disorders in the future through molecular genetic methods.

In this new version, we have added genes from the interim update of the Expert Committee of the International Association of Immunology Societies1 (IUIS), which publishes a regular overview of monogenic immunodeficiencies. A large part of the genes presented had already been taken into account in our gene panel, while additional genes have been added to our gene sets that cover genetic disorders such as susceptibility to infection for certain pathogen classes. A total of 17 genes have been added to our Panel for Immune Disorders, which now comprises 339 genes.

Great scientific progress has been made within the last year in the field of autoinflammatory diseases and autoimmune diseases. For example, a recent study in the New England Journal of Medicine describes a somatic change in the UBA1 gene as the cause of a disease characterized by fever, sterile inflammation, and dysplastic bone marrow that starts during adulthood2. The UBA1 gene – together with five other genes – has been added to our gene set for autoinflammatory diseases as part of the update and will be considered in future cases with a corresponding indication.

Our updated analysis strategy also includes the RNA genes SNORA31 and RNU7-1, which are newly associated with susceptibility to herpes simplex encephalitis and type I interferonopathy3, 4. RNA genes are usually not examined in the context of classic exome enrichments. The Panel for Immune Disorders is based on the Exome Xtra enrichment. In addition to genes that may be associated with the patient’s disease, the analysis of ACMG genes and the pharmacogenetic profile can also be requested.

The updated Panel for Immune Disorders is available now. You can find detailed information about the panel here. For further information, please do not hesitate to contact us at sales@cegat.de.

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1 Tangye S. G. et al., The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee, J Clin Immunol, 2021; 41(3): 666–679, DOI: 10.1007/s10875-021-00980-1

2 Beck et al., Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease, N Engl J Med, 2020 Dec 31; 383(27):2628-2638, DOI: 10.1056/NEJMoa2026834

3 Lafaille et al., Human SNORA31 variations impair cortical neuron-intrinsic immunity to HSV-1 and underlie herpes simplex encephalitis, Nat Med, 2019, Dec;25(12):1873-1884, DOI: 10.1038/s41591-019-0672-3

4 Uggenti et al., cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing, Nat Genet, 2020,Dec;52(12):1364-1372, DOI: 10.1038/s41588-020-00737-3