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.

Update: Panels for Skeletal Disorders and Connective Tissue Diseases

Expanded to more than 300 genes – 5 new gene sets. We have brought our Panels for Skeletal Disorders and Connective Tissue Diseases up-to-date with the latest science.

The Panel for Skeletal Disorders has been updated and expanded by 87 genes to 301 Genes, while the Panel for Connective Tissue Diseases has been expanded by 6 genes to 55 Genes. The diagnostic sensitivity has been increased and further differential diagnoses are now available.

For Panel for Skeletal Disorders a large number of changes have been implemented. The following gene sets have been expanded:

  • SKT03, Spondylometaphyseal dysplasia and Spondylo-epi-(meta)-physeal dysplasia
  • SKT04, Micromelic dysplasia: acromelic, acromesomelic, mesomelic and rhizo-mesomelic dysplasia
  • SKT05, Short-rib dysplasia
  • SKT07, Osteogenesis imperfecta and related skeletal dysplasias with decreased bone density
  • SKT08, Osteopetrosis and related skeletal dysplasias with increased bone density
  • SKT10, Limb malformations: isolated brachydactyly, synostoses, split-hand/foot, polydactyly, syndactyly, and selected genetic syndromes with limb malformations
  • SKT11, Craniosynostosis
  • SKT12, Potentially lethal skeletal disorders
  • SKT13, Seckel syndrome, 3-M syndrome, Rubinstein–Taybi syndrome, Kabuki syndrome, and further selected genetic syndromes with skeletal involvement

The Panel now also includes new gene sets for the diagnosis of lysosomal storage disorders with skeletal involvement (SKT14) and the craniofacial and patellar dysostoses (SKT15).

In addition, the gene sets of frequently requested single gene analyses can now be ordered via the Panel for Skeletal Disorders:

  • Achondroplasia, hypochondroplasia, and pseudoachondroplasia (FGFR3, COMP; SKT16)
  • Cleidocranial dysplasia (RUNX2 and differential diagnoses, SKT17)
  • Multiple exostoses (EXT1, EXT2; SKT18)

The Panel for Connective Tissue Diseases has been updated and expanded as well. Genes such as C1S, C1R and BGN are now covered by our gene set CTD02 (Connective tissue diseases: Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, thoracic aortic aneurysm and related disorders).

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. 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:

Panels for Skeletal Disorders

Panels for Connective Tissue Diseases

Large Update of the Panel for Blood and Immune Disorders, Separation into New Panels

Based on recent scientific findings, we have updated and revised our Panel for Blood and Immune Disorders.

Besides including 123 additional genes associated with blood and immune disorders, the most significant change is the separation of the panel into two stand-alone panels: one for genetic blood disorders (BLD) and one for primary immune deficiencies (PID). Both panels can now be ordered individually. This allows a more focused analysis of specific diseases and increases diagnostic sensitivity.

The new Panel for Blood Diseases (BLD) comprises 183 genes, divided into 5 gene sets:

  • Erythrocytes (BLD01), including differential diagnoses for Diamond-Blackfan anemia, Spherocytosis, Stomatocytosis, Erythrocytosis, Enzyme defects, Sideroblastic anemia, Dyserythropoietic anemia and Hypochromic microcytic anemia.
  • Thrombocytopenia (BLD02): The gene sets for Platelets, coagulation and Thrombocytopenia have been grouped under BLD02, including differential diagnoses for Thrombophilia, Hemophilia, and Macrothrombocytopenia.
  • Bone marrow failure syndromes (BLD03): This gene set has been greatly expanded.
  • BLD04 is a completely new gene set for the diagnosis of Hemochromatosis.
  • BLD05 is also a new gene set for VB12-dependent megaloblastic anemia.

The new Panel for Primary Immune Disorders (PID) comprises 230 genes, divided into 8 gene sets:

  • Antibody deficiency (PID01), allowing differential diagnoses for Hyper-IgM syndrome, Agammaglobulinemia, and common variable immunodeficiency.
  • Complement deficiencies (PID02), including Neisseria infections
  • Autoinflammatory diseases (PID03), including differential diagnoses for Periodic fever syndromes, Early-onset chronic inflammatory bowel diseases and Autoinflammatory syndromes without fever.
  • Immune Dysregulation (PID04) now also covers secondary HLH and Immune dysregulation with colitis.
  • Defects of Phagocytes (PID05), including differential diagnoses of Neutropenia, Mycobacteriosis, Leukocyte adhesion deficiency, chronic granulomatous disease.
  • Innate immunity defects (PID06), allowing differential diagnoses for Chronic mucocutaneous candidiasis, Herpes simplex encephalitis.
  • (Severe) Combined Immunodeficiency (PID07)
  • Syndromes with immunodeficiencies (PID08) including Hyper-IgE syndrome, Chilblain lupus, Interferonopathy.

Gene sets PID01 and PID04 were developed in collaboration with our partners Prof. Grimbacher, MD, and Prof. Ehl, MD, from the Center for Chronic Immunodeficiency (CCI) at the University Medical Center Freiburg.

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. 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 panels can be ordered here:

Panel for Blood Disorders

Panel for Immune Disorders

 

Comprehensive Update of the Panel for Skin Diseases

Based on recent scientific findings, we have updated our Panel for Genetic Skin Diseases (DRM). It is now available in version three.

Overall, the panel now comprises 253 genes. The diagnostic sensitivity of existing gene sets has been further increased, and new differential diagnostic options have been made available. Selected gene sets on the panel have been regrouped so that more specific suspected diagnoses are represented by their own focused gene sets.

These are the most important changes:

  • DRM02 has been expanded. In addition to the Hermansky-Pudlak syndrome, further albinism syndromes and differential diagnoses are now covered.
  • DRM03 has been focused on hyperpigmentation.
  • DRM08 has been expanded to include selective tooth agenesis.
  • The gene set for tumor-associated skin diseases (DRM10) has been replaced by a new gene set focused on photodermatosis. This includes phenotypes such as Xeroderma Pigmentosum, Cockayne syndrome, COFS syndrome and related diseases.
  • DRM13 has been expanded to include lipodystrophy.
  • Lymphedema (DRM14) is now a separate gene set (previously part of DRM12).

Please also note our cost and time efficient large panel approach: Our Panel for Skin Diseases has 253 genes and is divided into 12 gene sets. You can order a specific gene set (for instance Albinism, DRM01, 8 genes). We always sequence all 253 genes but limit the reporting to the ordered gene set. If the disease-causing mutation is not within the ordered gene set, we can quickly expand the analysis to any desired gene set for only little additional costs.

As all of our diagnostic panels, the DRM panel includes a panel-wide deletion/duplication screening using the copy number variation (CNV) track. Our CNV-Track allows us to detect single exon deletions with a sensitivity of >81%, larger deletions of three or more exons will be detected with up to >96% sensitivity. 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.

More information about the Panel for Skin Diseases can be found here. For further assistance please contact our team at sales@cegat.de.

CeGaT Launches the Molecular Pathology Panel for Targeted Identification of Therapy-Relevant Gene Mutations in Solid Tumors

It is essential to precisely identify therapy-relevant genetic changes quickly, cost-efficiently and in compliance with all quality standards. With the knowledge of these tumor-specific mutations, diagnoses can be further expanded to identify individual therapy options and drug combinations. Ineffective therapies and their side effects are avoided and new treatment options become available.

“For these clinical requirements we have developed the molecular pathology panel in cooperation with oncologists and pathologists. Also we have incorporated CeGaT’s long-standing expertise in the enrichment of relevant genomic areas. The CeGaT molecular pathology panel covers the most common tumor entities. It is possible to examine technically demanding tumor samples (liquid biopsy, small number of tumor cells, FFPE tissue). At CeGaT, the proportion of tumor samples that cannot be processed due to technical reasons is below 2%. Therefore it is possible for attending oncologists to obtain results quickly and efficiently. The findings support our colleagues in selecting a targeted therapy.” says Dr. med. Dr. rer. nat. Saskia Biskup, CEO of CeGaT.

The CeGaT molecular pathology panel covers the following tumor entities:

  • Breast, ovarian and pancreatic carcinomas (10 genes, SSP05): BRCA1 / 2, ATM, CDH1, CHEK2, PTEN, PALB2, RAD51C, RAD51D, TP53
  • Melanoma (4 genes, PAT01): BRAF exons 11, 15, V600; NRAS exons 2-4; KIT exons 9, 11, 13, 14, 17, 18; TP53
  • Colorectal carcinoma (5 genes, PAT02): BRAF exons 11, 15, V600; KRAS exons 2-4; NRAS exons 2-4, PIK3CA exons 9, 20; TP53
  • Lung carcinoma (7 genes, PAT03): BRAF exons 11, 15, V600; EGFR exons 18-21, KRAS exons 2-4; ERBB2: (HER2) exon 20; MET exon 13, PIK3CA exons 9, 20; TP53, ALK-EML4; translocation, ROS1 translocation
  • Gastrointestinal stromal tumors (4 genes, PAT04): BRAF exons 11, 15, V600; PDGFRA exons 12, 14, 18; KIT exons 9, 11, 13, 14, 17, 18; TP53
  • Glioblastoma (8 genes, PAT05): BRAF exons 11, 15, V600; IDH1 exon 2; IDH2 exon 4; PIK3CA exons 9, 20; TP53; TERT hotspots in the promoter; H3F3A, HIST1H3B
  • Microsatellite instability (MSI) via PCR: (markers: BAT25, BAT26, NR21, NR22, NR27)

The Molecular Pathology Panel can be ordered here. Should you have any questions, please contact us at sales@cegat.de.