Neurology

Amplexa is uniquely specialized in epilepsy having developed our panels in close collaboration with researchers from Filadelfia, the Danish Epilepsy Centre and from King's College Hospital. Rikke Steensbjerre Møller, PhD, from Filadelfia, and Prof Deb Pal from King's College Hospital London, are part of Amplexa Genetic's Advisory Board.

 

In the field of epilepsy Amplexa currently offers three targeted Next Generation Sequencing (tNGS) panel:

 

Childhood Epilepsy Panel (113 genes)

Suitable for diagnosis of epilepsy and epileptic encephalopathies, in particular those with early onset of seizures (up to ~3 years of age). For neonatal onset of seizures, positive findings are made in approximately 60% of patients. The panel also contains genes for familial focal epilepsies and epilepsies with later age of onset of seizures.

 

Brain Malformation Panel (40 genes)

The 40 genes relevant for brain malformation testing is included in our EPIDASD panel and can only be ordered as part of an EPIDASD panel.

 

Progressive Myoclonic Epilepsy Panel (11 genes and 1 SNP)

Request this test, if there is a suspicion of a progressive form of a progres­sive form for epilepsy (Unverricht-Lundborg, Lafora and progressive meta­bo­lic conditions).

This test is DS/EN ISO 15189:2013 accredited.

 

EPIDASD - Epilepsy | Intellectual Disability | Autism Spectrum Disorder (~559 genes).

This test is relevant for autisme and autism spectrum disorders without epilepsy as well as mental retardation, intellectual disability and combinations thereof. The test includes genes from tests mentioned above (CHE, PME, BMF) plus an additional 400 genes. 

 

 

We can extract single genes from our panels or create virtual panels customized to your needs, by blinding ourselves to the genes you wish to leave out. This way, we customize our analysis to your needs. Prices vary accordingly.

 

Looking for a specific gene or phenotype? Use our selector in the center of our front page