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 email@example.com. The updated Panel for Hereditary Eye Diseases is now available and can be requested here.
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 firstname.lastname@example.org.
Please also note our cost and time efficientlarge 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.
https://www.cegat.de/web/wp-content/uploads/2017/09/Seniorenpaar_1920.jpg10081920woltershttps://www.cegat.de/web/wp-content/uploads/2017/11/CeGaT_Logo_Neu_horizontal_mit-claim-300x77.pngwolters2018-02-15 16:39:392018-02-15 16:44:36Comprehensive Update of the Panel for Neurodegenerative Diseases