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.
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.