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.

Ciliopathies: Comprehensive Panel Update

Based on recent scientific findings, we have updated our Panel for Ciliopathies (CIL). It is now available in version nine.

The total number of genes has been increased to 90, which further improves the likelihood of finding the causative variant. The Panel for Ciliopathies comprises the following gene sets:

  • Primary Ciliary Dyskinesia
  • Joubert Syndrome
  • Bardet-Biedl Syndrome
  • Senior-Loken Syndrome

This panel covers over 99.9% of the target region at a minimum of 30x, while the average coverage is over 900x.

The aforementioned gene sets are part of our large-panel approach to offer the treating physician all differential diagnostic options: We always sequence all 90 genes while focusing our analysis on the requested, individual gene set. If the disease causing mutation is not identified in the initial interpretation, we can extend the analysis to any desired gene set. In addition, we have added the option to analyze all 90 genes for pathogenic and likely pathogenic variants (ACMG classes 4 and 5).

The diagnostic yield is further increased by the standard interpretation of copy number variations (CNV).  Our CNV detection algorithm allows us to identify single exon deletions with a sensitivity of >81%. Larger deletions of three or more exons are detected with >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.

For more information about this update please contact sales@cegat.de. The updated Panel for Ciliopathies is now available and can be requested here.

Hereditary Eye Diseases: Comprehensive Panel Update

Based on recent scientific findings, we have updated our Panel for Hereditary Eye Diseases (EYE). It is now available in version nine. 64 genes associated with hereditary eye diseases are added. This increases the total number of genes to 384, further increasing the likelihood of finding the causative variant for hereditary eye diseases.

As part of the panel expansion, we have included new gene sets for the following phenotypes:

  • Glaucoma (gene set EYE23)
  • Corneal dystrophies (gene set EYE24)
  • Ectopia lentis (gene set EYE25)

Existing gene sets, such as optic atrophy (EYE17) or cataract (EYE21) have been expanded, further increasing the sensitivity of our analysis. In addition, our large-panel approach offers the treating ophthalmologist many differential diagnostic options: We always sequence all 384 genes while focusing our analysis on the requested gene set. If the disease causing mutation is not identified in the initial interpretation, we can easily extend the analysis to any desired gene set. In addition, we have added the option to analyse all 384 genes for pathogenic and likely pathogenic variants (ACMG classes 4 and 5).

The diagnostic yield is further increased by the standard interpretation of copy number variations (CNV).  Our CNV detection algorithm allows us to identify single exon deletions with a sensitivity of >81%. Larger deletions of three or more exons are detected with >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. 

For more information about this update please contact diagnostic-support@cegat.de. The updated Panel for Hereditary Eye Diseases is now available and can be requested here.