Panel Update: Improvement of the Panels for Epilepsy, Metabolic Diseases & Brain Development Disorders and Mitochondriopathies

The diagnostic panels for the disease categories Epilepsy, Metabolic Diseases & Brain Development Disorders (EPI) and Mitochondriopathies (MIT) have been updated in accordance with the latest scientific findings.

As part of the update, the gene sets for metabolic diseases (MET) have been integrated into the Panel for Mitochondriopathies (MIT). This new, fourth version of the Panel for Metabolic Diseases including Mitochondriopathies now comprises 539 genes, divided into 14 gene sets for metabolic diseases and 9 for mitochondriopathies. The reorganization treats mitochondriopathies as part of metabolic diseases. A grouping of disease patterns was thereby created that offers the treating physician new differential diagnosis options.

Since the majority of the MET gene sets have been moved, the EPI panel has been renamed to Panel for Epilepsy & Brain Development Disorders. It now contains 7 gene sets for epilepsy and 11 for brain development disorders. Still part of the panel are the phenotypes for metabolic diseases that offer differential diagnosis options: congenital glycosylation disorders (MET01), lysosomal diseases (MET02), and peroxisomal biogenesis defects (MET03). In total, the panel now comprises 699 genes in 21 gene sets.

The following changes have been made to individual gene sets of the two panels:

  • The gene set for epilepsy & developmental delay (incl. epileptic encephalopathies) (EPI02) has been extended by 18 genes.
  • GPI anchor deficiencies / hyperphosphatasia (EPI12) has been supplemented by 5 genes.
  • The number of analyzed genes for macrocephaly (BRN04) has been increased by 10.
  • The gene set for Joubert’s syndrome (BRN07) can now be ordered as an integral part of the EPI panel.
  • The gene set for Leukodystrophies and differential diagnoses (BRN10) now contains 51 additional genes.
  • A new gene set is available for the diagnosis of the Kabuki syndrome (BRN11).

Please also note our cost and time efficient large panel approach. We always sequence all 699 (EPI) respectively 539 (MIT) genes of the panel and analyze the ordered gene set. As a result, we can quickly expand the analysis to other gene sets. Furthermore, we offer to check all genes of the panel for ACMG class 4 and 5 variants. All our diagnostic panels include a panel-wide deletion/duplication analysis – free of charge. We validate pathogenic deletions or duplications by means of MLPA or qPCR before we report them. The highest quality possible is our standard for diagnostics.

For further information on the panels, please contact us at sales@cegat.de for advice. The new panels can be requested here (EPI) and here (MIT).

CeGaT’s Genetic Tumor Diagnostics: Significantly Enhanced Medical Reporting

CeGaT has updated its Somatic Tumor Panel: Sequencing of 742 genes in tumor and normal tissue, reporting of treatment option, TMB and MSI determination, illustration of tumor-relevant signaling pathways. This helps physicians to identify the best therapeutic strategy.

Every tumor has an underlying genetic cause: a unique set of mutations that help the tumor to survive, reducing its sensitivity to treatment and developing resistance against drugs. Knowing a tumor’s mutations helps to identify promising therapeutic strategies and to avoid ineffective treatment options with their associated side effects. The goal of our Somatic Tumor Panel is to analyze all genes known to be involved in the development and progression of a tumor and to make this information accessible by means of a comprehensive and actionable medical report.

Our medical report on somatic tumor mutations features a wide range of analyses that offer physicians a detailed understanding of the molecular changes within the tumor cells. All our analyses are designed to assist the treating oncologist to choose an individualized treatment for each patient:

  • Treatment options

Our comprehensive medical report describes which of the tumor’s somatic mutations have potential therapeutic relevance. We list all treatment options.

  • TMB/MSI determination

Reliable determination of tumor mutational burden (TMB) and microsatellite instability (MSI) is a basis for a decision on immunotherapies with checkpoint inhibitors.

  • Illustration of tumor-relevant signaling pathways

Understanding altered signaling in the tumor helps to find its vulnerabilities and allows to identify the tumor’s possible bypass strategies.

We continuously update our panel according to recent scientific publications. For this update 32 genes have been added. We now analyze 742 tumor associated genes and selected translocations in 31 genes.

To ensure the highest sensitivity, specificity, and accuracy, we base our analysis on tumor and matching normal tissue. Only this approach guarantees accurate results. To maximize diagnostic yield, we include the analysis of single nucleotide variants (SNVs), insertions and deletions (INDELs), and copy number variants (CNVs).

We also offer a liquid biopsy option: Liquid biopsy is a useful method to access tumor tissue if it is not possible to obtain tumor tissue through surgery.

Sequencing, bioinformatic analysis and scientific interpretation are all done in-house by our specialized team. Our laboratory is fully accredited according to CAP, CLIA and DIN EN ISO 15189:2014.

For any questions please contact our team at sales@cegat.de. The somatic tumor analysis can be ordered here.

Update of the Panel for Neuromuscular Diseases

A significant increase in sensitivity leads to almost perfect coverage of all genes. Also new scientific findings have been incorporated. The Panel for Neuromuscular Diseases is now available in version seven.

The sensitivity of the new version has been increased from > 98.4 % to > 99.997 % in non-homologous regions. This results in almost perfect coverage of the panel. Furthermore, the panel’s gene sets have been revised and updated according to the latest scientific research (oder findings). In particular the gene set for congenital myasthenic syndromes and arthrogryposis (formerly NMD06) has been divided into two dedicated gene sets:

  • Congenital myasthenic syndromes (29 genes, NMD13) (AGRN, ALG14, ALG2, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COL13A1, COLQ, DOK7, DPAGT1, GFPT1, GMPPB, LAMA5, LRP4, MUSK, MYO9A, PLEC, PREPL, RAPSN, SCN4A, SLC18A3, SLC25A1, SLC5A7, SNAP25, SYT2, VAMP1) 
  • Arthrogryposis (33 genes, NMD14) (ACTA1, ADCY6, ADGRG6, ALG3, BICD2, CHST14, CNTNAP1, DNM2, ECEL1, ERBB3, ERGIC1, FBN2, FKBP10, GLDN, GLE1, LGI4, MYBPC1, MYH3, MYH8, NALCN, NEK9, PIEZO2, PIP5K1C, PLOD2, SYNE1, TNNI2, TNNT3, TOR1A, TPM2, UNC50, VIPAS39, VPS33B, ZC4H2)

Our large panel approach is cost and time efficient: We always sequence all 344 genes of the neuromuscular disease panel and analyze the ordered gene set. As a result, we can quickly expand the analysis to all other gene sets. Furthermore we offer to check all 344 genes of the neuromuscular disease panel for ACMG class 4 and 5 variants. All our diagnostic panels include a panel-wide deletion/duplication analysis – free of charge. We validate pathogenic deletions or duplications by means of MLPA or qPCR before we report them. The highest quality possible is our standard for diagnostics.

For any questions please contact our team at sales@cegat.de. The new panel can be ordered here.

Tumor Immuno-Oncology as an Independent Analysis with Biomarker Tumor Mutation Load (TMB) and Microsatellite Instability (MSI)

CeGaT now offers the analysis of tumor mutational burden (TMB) and microsatellite instability (MSI) as a stand-alone analysis. The diagnostic portfolio of genetic tumor diagnostics is thereby expanded with a specific test for decisions on immunotherapy using checkpoint inhibition.

Immunotherapy has become an important and promising treatment option for cancer patients in recent years. Immune checkpoint inhibition is already a frequent therapy recommendation of the Molecular Tumor Board at the University Hospital in Tübingen. Its relevance to medicine and society has also been recognized by the Nobel Prize Committee, which has awarded this year’s Nobel Prize for Medicine to James P. Allison and Tasuku Honjo for their discovery of cancer therapy by inhibition of negative immune regulation.

CeGaT supports oncologists in carrying out this innovative therapy option in clinical practice. CeGaT’s TMB analysis has been available since 2017, as a part of the Somatic Tumor Panel for Treatment Decisions. Offered as a stand-alone analysis, the TMB diagnostics is now available with shorter turnaround times, improved cost-efficiency, and features our industry-leading high quality.

TMB as a predictive tumor marker for immuno-oncology

The benefit of immunotherapy using immune checkpoint inhibitors is undeniable, yet success rates still vary. Despite the same diagnosis, some groups of patients respond better to immunotherapy than others. Therefore, there is a need to identify and standardize new biomarkers for the identification of groups of patients that respond well to immunotherapy. One of these biomarkers is tumor mutation burden (TMB).

A growing number of studies are providing evidence that tumor mutational burden (TMB) is a good marker for treatment of tumor patients. It is defined as the number of somatic mutations per million base pairs (Mut/Mb). High TMB is associated with an increased response to therapy with immune checkpoint inhibitors.

High-quality determination of TMB is the basis for therapeutic decisions on checkpoint inhibition and should be regarded as part of routine diagnostics in tumor therapy.

The CeGaT TMB analysis can be requested here:

Tumor Immuno-Oncology Analysis (TMB and MSI)

For further assistance please contact our team at sales@cegat.de.

Update: Panel for Cardiac Diseases

We have updated our Panel for Cardiac Diseases. It has been expanded by 46 genes to cover 202 genes in total, grouped into 15 gene sets. This significantly increases the likelihood of finding the causal variant for genetic cardiac diseases.

Our Diagnostic Panel helps to detect cardiac diseases at an early stage so that targeted, preventive measures can be taken. Based on recent scientific findings we have updated all gene sets of the panel. Particularly noteworthy in this context is the gene set for isolated and syndromal congenital heart defects (HRT09), which has been expanded by 39 genes.

The Panel for Cardiac Diseases was enlarged by the following gene sets and phenotypes:

  • Cardiomyopathy with onset in neonatal period, infancy or childhood (HRT13)
  • Neuromuscular diseases with cardiomyopathy (HRT14)
  • Pulmonary arterial hypertension (HRT15)
  • Hypercholesterolemia and Hyperlipoproteinemia (HRT16)

Please also note our cost and time efficient large panel approach. We always sequence all genes of a panel and analyze the ordered gene set. As a result, we can quickly expand the analysis to any desired gene set for only little additional costs. Furthermore, all diagnostic panels include a panel-wide deletion/duplication screening using the copy number variation (CNV) track. We validate our analysis by means of MLPA or qPCR in case of irregularities. The del/dup analysis contributes to CeGaT’s high quality medical reports to provide you with all major analysis options available.

For further assistance please contact our team at sales@cegat.de. The new panel can be ordered here.