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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Watch Our Free Webinar and Learn How We Can Help You Solve Complex Patient Cases

Many patients show nonspecific and complex clinical pictures. In such cases, diagnosis is difficult, which means years of uncertainty for those affected. Genetic diagnostics helps you to end your patients’ diagnostic odyssey. Our innovative exome diagnostics approach incorporates all achievements of genetic diagnostics, realizes maximum yield, and provides a detailed understanding of a disease’s cause and pathomechanisms.

Learn how our ExomeFocus and ExomeXtra® can help you solve patient cases and find the best therapeutic option in the recording of our free webinar from June 28, 2022.

Our specialists will present clinical cases that demonstrate the clinical utility of our exome diagnostics.

Speakers:

Stefan Griesbach

Dr. Stefan Griesbach
Head of Sales

Dr. Martin Ritthaler
Medical Validation and Diagnostic Support

If you have any questions, please do not hesitate to contact us at diagnostic-support@cegat.com.

Find out more about our exome diagnostics portfolio

Disease Prevention Panel updated and expanded to include diabetes module

As part of the regular panel updates, CeGaT has updated and expanded the Disease Prevention Panel. The panel now also covers forms of genetic diabetes mellitus and offers a wider diagnostic spectrum in the field of pharmacogenetics.

Genetic risk factors play an important role in many diseases occurring in our society. CeGaT’s prevention panel examines genetic risk factors for various diseases, such as cancer or cardiovascular diseases. If an individual risk for a disease is known, a timely action can be taken to prevent or delay the outbreak or progression of a disease.

New module identifies diabetes dispositions – the starting point for preventive measures

The new module “Diabetes” covers five genes that are associated with an increased risk for familial diabetes mellitus. Diabetes mellitus (diabetes) describes a group of diseases manifested by elevated blood glucose levels. In the development of familial diabetes mellitus genetic plays a central role. Maturity-Onset Diabetes of the Young (MODY), analyzed in the Prevention Panel, can be diagnosed partly in adolescence and partly in adulthood. During the course of the disease, microvascular complications such as damage to the kidneys, eyes, and nerves may occur.

If the patient has a predisposition to diabetes, appropriate preventive measures can be initiated. Depending on the type of disease, therapy consists of lifestyle adjustments such as dietary changes and, if necessary, drug treatment.

Expansion of the Pharmacogenetics Module

Pharmacogenetics deals with a person’s individual, genetically determined drug metabolism. Not everyone processes medications in the same way – what helps one person may be ineffective or even harmful in another. The Pharmacogenetics Module of the Prevention Panel determines whether active ingredients are broken down particularly quickly or very slowly. With the update of the panel, the ABCG2 and G6PD genes were added to the module. This has expanded the diagnostic spectrum in the area of antibiotics, antidiabetics, statins, and in the treatment of acute hyperuricemia kidney failure. Based on the test results, the physician can select a suitable drug and administer the correct dosage. This also applies to future therapies.

The new panel can be requested here.

For further information, please do not hesitate to contact us at diagnostic-support@cegat.com.Find Out More!

New Exome Diagnostics: ExomeFocus – Cost-Effective and Fast Results

CeGaT has adapted its in-house exome diagnostics and revised them according to the latest clinical findings. Our ExomeXtra® covers not only all coding regions but, in the third version, also all >22,000 non-coding variants classified as pathogenic or probable pathogenic in the HGMD database. With the new ExomeFocus, we offer a fast, comprehensive, and inexpensive exome diagnostic that can be used well in an inpatient setting.

We see a high clinical need also for inpatients (pediatrics, neonatology, metabolic centers) to have access to a rapid diagnosis (<12 days) when a genetic disease is suspected. Two years ago, we were able to open up a new dimension in exome diagnostics thanks to our in-house exome enrichment, our optimized bioinformatics software, and our highly skilled diagnostic evaluation experts. With CeGaT ExomeXtra®, your patients benefit from a unique approach that combines the advantages of Whole Exome Sequencing (WES) and Whole Genome Sequencing (WGS) while circumventing their weaknesses. In doing so, CeGaT ExomeXtra® achieves better results than commercially available WES and WGS and dramatically increases diagnostic yield.

Update: CeGaT ExomeXtra® – newly added variants and optimized coverage enable a further increase in sensitivity

The third version of CeGaT ExomeXtra® includes all variants currently classified as pathogenic or likely pathogenic, with over 22,000 non-coding variants of HGMD and nearly 15,000 variants listed in ClinVar. In addition, we improved the uniformity of coverage further in the design process, thus increasing clinical sensitivity.

This makes CeGaT ExomeXtra® the most effective genetic test for patients with complex, non-specific, and rare diseases. Our proprietary exome enrichment covers not only all protein-coding regions but also all known pathogenic intronic and intergenic variants, providing the most comprehensive database for the most informed genetic diagnosis.

Click here for further information on CeGaT ExomeXtra®.

New: CeGaT ExomeFocus – focused analysis for cost-efficient results

Based on prioritized high-impact variants, CeGaT’s ExomeFocus identifies likely pathogenic and pathogenic variants (ACMG classes 4 and 5) in the shortest possible time. This focused analysis enables you to obtain cost-effective results in as little as two to three weeks and less than 12 days in very urgent cases. ExomeFocus can also be used in a modular fashion or expanded to a trio exome analysis at any time.

Your advantages at a glance:

  • Precise, cost-efficient, and rapid results within 2-3 weeks
  • Expandable at any time
  • Optional ACMG interpretation, PGX reporting, HLA typing possible

More information about CeGaT ExomeFocus can be found here.

Benefit from our unique approach to exome sequencing and increase the diagnostic yield for your patients.

We look forward to answering your questions and advising you. Please get in touch with us at diagnostic@cegat.com.

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Explore DNA Methylation on a Genome-Wide Scale

CeGaT expands its Research and Pharma Solutions product portfolio with Whole Genome Methylation Sequencing service. DNA methylation is one of the most common epigenetic modifications with a fundamental influence on gene expression, cellular differentiation, and genomic imprinting. We generate high-quality libraries and sequencing data through an enzyme-based conversion of unmethylated cytosines. Thus, we achieve a superior sensitivity in identifying 5-methylcytosine (5-mC) and 5-hydroxymethylcytosine (5-hmC). 

DNA methylation is one of the most examined epigenetic modifications. Without any change in the DNA sequence itself, DNA methylation regulates gene activity and function. DNA-Methyltransferases mediate the regulation of gene activity and function by transferring a methyl-group to the fifth carbon of the cytosine ring. In mammals, the resulting 5-mC and 5-hmC occur mainly in CpG dinucleotides. However, in other organisms, DNA methylation can also happen in a non-CpG context. 

Alterations in DNA methylation are closely associated with cancer, metabolic disorders, and neurological diseases. To detect methylation patterns, unmethylated cytosines are converted to uracils during library generation and can therefore be distinguished from methylated or hydroxymethylated cytosines.

For the conversion, CeGaT uses an enzyme-based method (EM-seq™). Compared to conventional bisulfite conversion, which often damages the DNA, the more gentle enzyme-based conversion technology leads to highly accurate methylation determination. The resulting high-quality methylation data can be used for biomarker discovery, clinical studies with methylation-associated treatments, or other clinical applications. Further, the analysis of DNA methylation provides, for instance, an insight into cell differentiation mechanisms, characteristic methylation profiles, and specific tissue development.

Whole Genome Methylation Sequencing provides:

  • genome-wide profiling of (hydroxy) methylated cytosines, including regions with low CpG-density 
  • determination of the global DNA methylation level 
  • information about the conversion rate for each sample, generated via analysis of a positive (pUC19) and negative control (lambda phage)

We gladly support you in terms of sample preparation for your clinical study or research project. Benefit from our long-standing expertise in the diagnostic field, our strict quality standards, and our practical knowledge.

For further information, feel free to contact us at rps@cegat.com.

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