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
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 email@example.com.
https://www.cegat.de/web/wp-content/uploads/2018/01/Keyvisual-Befund-ohne-Personen_HP.png7171920woltershttps://www.cegat.de/web/wp-content/uploads/2017/11/CeGaT_Logo_Neu_horizontal_mit-claim-300x77.pngwolters2018-01-16 10:06:412018-01-17 16:22:29Did you know? We include a copy number variation (deletion/duplication) analysis in every diagnostic panel.