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.

Comprehensive Update of the Panel for Neurodegenerative Diseases

Based on recent scientific findings, we have revised our panel for neurodegenerative diseases (NDD). It is now available in version eight.

The most important changes are:

  • 83 genes have been added.
  • The gene set for dystonia (NDD10) now comprises the gene KMT2B.
  • The CAPN1 gene is now part of the hereditary spastic spinal paralysis (HSP) gene set (NDD20).
  • The NKX6-2 gene has been added to the ataxia (NDD14), HSP (NDD20) and leukoencephalopathy (NDD22) gene sets.
  • We have introduced a completely new gene set for episodic ataxia (NDD30), which is now part of the NDD panel.

More information about the NDD panel can be found here. For further assistance please contact our team at sales@cegat.de.

Please also note our cost and time efficient large panel approach: Our panel for neurodegenerative diseases has 351 genes and is divided into 29 gene sets. You can order a certain gene set (for instance Dystonia all, NDD10, 40 genes). We always sequence all 351 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 NDD 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.

Did you know? We include a copy number variation (deletion/duplication) analysis in every diagnostic panel.

Since 2009 we have been supporting physicians in the diagnosis of their patients. Our genetic panels have the highest detection rates to find causative pathogenic variants.

Did you know? – As part of every NGS analysis, we perform a panel-wide copy number variation (CNV) analysis in order to detect exon/gene deletions and duplications.

Many diseases are caused by the deletion or duplication of exons or whole genes. Consequently, genetic diagnosis is only comprehensive if full CNV analysis is performed.

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.

Copy number variation is computed using uniquely mapping, non-duplicate, high quality reads using an internally-developed method based on sequencing coverage depth. We use reference samples to create a model of the expected coverage that represents wet-lab biases as well as inter-sample variation. CNV calling is performed by computing the sample’s normalized coverage profile and its deviation against the expected coverage. Genomic regions are called as a copy number variant if they deviate significantly from the expected coverage.

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.

  • Shorten the time to diagnosis dramatically.
  • Prevent unnecessary examinations and long odysseys of diagnostic procedures.
  • Allow personalized treatment options if available.
  • Counsel patients and family members with respect to the disease.
  • Reduce medical expenses.

Please find more information on our diagnostic panels here, or contact our dedicated support via sales@cegat.de.

Panel Update: Hereditary Kidney Disease Diagnostic Panel

We have updated our panel for kidney diseases according to new scientific findings. In total, more than 100 new genes have been included, so additional differential diagnostic options are now available. This increases the likelihood of finding the causal variant for many hereditary kidney diseases.

The expansion of the total number of analyzed genes results in several improvements which affect the already existing specialized gene sets:

  • In the new version, the gene set for cystic kidney disease (KID02) will be expanded by genes which reflect the recessive inheritance. Furthermore, we now offer clearer predefined options for PKD1 / PKD2 diagnostics:
    • KID02 complete – including PKD1 / PKD2,
    • KID02 without PKD1 / PKD2,
    • PKD1 / PKD2 alone, without the other genes in the gene set.
  • The Alport syndrome (KID07) gene set has been extended to allow a differential diagnosis of thin basement membrane type nephropathies.
  • For the Bartter syndrome (KID10) gene set, the number of genes analyzed was increased from 8 to 17. Which means further differential diagnoses are now possible, particularly for hypomagnesemia.

Furthermore, we are launching KID16, a completely new gene set for primary heritable aminoaciduria. This set contains 8 genes and is now an integral part of the hereditary kidney disease panel.

For further information about the changes to the panel, please contact our diagnostic support team (diagnostic-support@cegat.de). The updated hereditary kidney disease panel is available now and can be ordered here.

New: Focus panels for cost effective genetic analysis for well characterized clinical pictures

CeGaT now provides sequencing analysis of distinct gene sets (focus panels) for the genetic clarification of well-defined clinical diagnoses. Each new focus panel contains a specific selection of genes. The focus panel analysis therefore represents a cost effective alternative to the large diagnostic panels in cases with clear and characterized disorders. The genes of the respective focus panels are sequenced and interpreted in parallel which allows for fast processing times.

The new focus panels cover a variety of different genetic disorders across several medical fields and, for some disease classifications, they broaden the existing CeGaT large panel portfolio. For example, from now on mutations in genes associated with glucose metabolism may be analyzed, therefore providing a reliable MODY (Maturity Onset Diabetes of the Young) syndrome diagnostic test. Furthermore, CeGaT now substitutes the previous multi-stage Sanger diagnostic process for Hereditary haemorrhagic telangiectasia (HHT) or Afibrinogenemia/Dysfibrinogenemia with the faster, and more cost effective NGS based focus panel analysis.

CeGaT now provides focus panels for the following diseases:
Afibrinogenemia/Dysfibrinogenemia, Common variable immune deficiency, Tuberous sclerosis, Hereditary breast and ovarian cancer (small), Hereditary breast and ovarian cancer (large), Lynch syndrome, Hereditary hemorrhagic telangiectasia (HHT), Neurofibromatosis, Hyperekplexia, Holoprosencephaly, Refsum disease, Episodic ataxia, Dopa-responsive dystonia, Neuropathic pain syndromes, Malignant hyperthermia, Familial intrahepatic cholestasis, Maple syrup urine disease, Maturity onset diabetes of the young (MODY), Kabuki syndrome and Craniosynostoses.

View focus panels