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).

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.

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