News

Amplexa Genetics A/S is proud to announce that from February 1st 2018, Dr. Helle Hjalgrim will be joining the Amplexa Genetics management team as CEO and Medical Director.

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Amplexa Co-Organizes Focal Epilepsy Conference together with The Danish Epilepsy Centre, Filadelfia, and a competent and highly respected international scientific committee.

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Mutations in GABRB3: From febrile seizures to epileptic encephalopathies

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Join us at the Focal Epilepsy Conference 2017!

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Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy

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Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies

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Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies

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Amplexa Genetics is proud to announce the launch of a joint Amplexa-King’s multidisciplinary epilepsy genetics clinic at King's College Hospital, London, UK.

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The contribution of next generation sequencing to epilepsy genetics.

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Amplexa is proud to have received full accreditation of all our NGS-services effective December 3rd, 2015.

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Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.

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Amplexa sponsored, exhibited and presented at the second annual NGS 2015 Nordic Conference held in the Medicon Village in Lund. Thank you for visited our booth to learn more about us and our services, and for taking the time to talk to us. Dr Klaus Brusgaard, Amplexa co-founder, gave an oral presentation on the clinical utility of our epilepsy panel highlighting what we have learned from more the most recent (300) epilepsy cases.

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Amplexa sponsored and exhibited the Brittish Chapter ILAE Annual Scientific Meeting held at the Institute of Education in London, UK, on September 23rd to 25th. Thank you for visited our booth to learn more about us and our services, and for taking the time to talk to us.

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Amplexa sponsored, exhibited and presented at the 31st International Epilepsy Congress held in Istanbul, Turkey on the 5th–9th of September 2015. Thank you for visited our booth to learn more about us and our services, and for taking the time to talk to us. Amplexa presented two posters at the IEC: "Targeted next generation sequencing as a diagnostic tool in 300 patients with epileptic encephelopaties" by Hans Atli Dahl et al. and "Genetic testing in adults with intellectual disability and epilepsy" by Line H.G. Larsen et al.

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Our Childhood Epilepsy now includes 85 genes. The 7 genes added are clinically relevant, high impact genes, which add to the diagnostic value of our Childhood Epilepsy Panel. Read more about the panel in our Neurology Section and the references to research in our Publications.

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Amplexa exhibited and sponsored the 38th National Italian Epilepsy Congress [LICE] togethter with CORI GROUP Srl. Amplexa was also invited to give an oral presentation on the benefits of genetic testing as a tool for differential diagnosis in epilepsy.

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Mutations in KCNT1 cause a spectrum of focal epilepsies

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Our Childhood Epilepsy now includes 78 genes. The 33 genes added are clinicallay relevant, high impact genes, which add to the diagnostic value of our Childhood Epilepsy Panel. You can read more about the panel in our Neurology Section and the references to research in our Publications.

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Clinical Phenotype of De Novo GNAO1 Mutation: Case Report and Review of Literature

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Amplexa exhibited at the 5th London-Innsbruck Colloquium on Status Epilepticus held at Imperial College, London (UK) to showcase Amplexa's competencies in the field of epilepsy.

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Amplexa joined the 1st Workshop on Sleep and Epilepsy in Children Bologna (Italy) to share with the Italien epileptologist community information about our tests and competencies. Amplexa particpated together with CORI GROUP srl.

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We have added 5 genes to our Childhood Epilepsy Panel during 2014, to keep up our synchronization with the latest research available, in line with our priority for delivering highly accurate, quality tests. You can read more about the panel in our Neurology Section and the references to research in our Publications.

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Our renewed website was launched this december with only one purpose: serving you better. Now you can easily browse through our products via the menu or our searching tool and quickly obtain the information you need about our tests, our methods, genetic testing, or simply, to get to know who we are, and the values we stand for.

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Amplexa, as a part of the Fargen project, has started sequencing a Faroese reference exome cohort for the National Biobank. The aim is to sequence whole genomes for 1% of the Faroese population, at a clinical grade quality to improve health knowledge and with it, the quality of the Faroese health system. The project will continue trough 2015 and 2016.

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Amplexa was glad to attend and sponsor the Spanish Anti Epilepsy League (LECE), which this year revolved around neurosurgery and counted with the participation of numerous field specialists, and took place in Sevilla, Spain.

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Amplexa sponsored and participated in this NGS event organized in collaboration between Odense University Hospital and Biotexcel, bringing together key opinion leaders from laboratories in the nordic countries who are using NGS technology for clinical and research purposes.

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Amplexa participated and sponsored the annual meeting of the Danish Association of Medical Genetics (Dansk Selskab for Medecinsk Genetik)in Nyborg, in line with our involvement with the relevant institutions in our field.

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Amplexa participated -and sponsored- the traditional ILAE UK Chapter Annual Scientific meeting which took place in Nottingham this year and where we had the pleasure of meeting and learning from many highly-regarded specialists in the field of epilepsy.

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Our partner, the Danish Epilepsy Center in Dianalund organized this symposium on Dravet Syndrome, titled: "How to Proceed - diagnostics, clinics, treatment, course", which Amplexa had the pleasure to support given the strong character of our mutual collaboration and our interest in Dravet Syndrome as such.

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Amplexa participated in the 11th edition of the renowned Epileptology Congress celebrated this year in Stockholm, jointly organised by the International League Against Epilepsy and the Comission of European Affairs.

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Amplexa sponsored the 16th Annual Meeting of the Infantile Seizure Society (ISS), in collaboration with the Turkish Child Neurology Association in Cappadocia (Turkey). This year, the congress focused in the Epileptic syndromes of infancy and early childhood, an area in which Amplexa is deeply involved.

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Amplexa, in collaboration with the University of the Faroe Islands, the Faroe Marine Research Institute and the Faroese Food- and Veterinary Authority Agency have formed the HerGen research group with the purpose of sequencing the genome of the North Atlantic herring, a great step towards the development of a much needed stock management tool for the industry.

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Amplexa Genetics is excited to announce Niels Christian Ganderup as the new Head of International Sales. We are sure his extensive sales experience will help us meet our objectives and drive us towards success.

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Amplexa participated in the Workshop NGS Manchester with a talk on "Comparison of NGS Platforms & Software"

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Amplexa launches two additional Epilepsia NGS panels. One with genes responsible for myoclonic epilepsy and one involved in epilepsia and retardation.

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As part of our clinical research Amplexa contributes to a presentation on the clinical outcome of having Vitamin D-dependent rickets type 1A due to mutation in CYP27B1 at the ESPE 2013 meeting in Milan, Italy.

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Amplexa is involved in a study of analysis of SLC2A1 in children with early onset absence epilepsy resulting in the publication "The role of SLC2A1 in early on set and childhood absence epilepsies" in Epilepsy Research.

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Amplexa and founders decide to expand the development of the firm investing in LIMS systems and accreditation according to ISO standards.

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Amplexa is invited to lecture at the meeting Medicine and Man, Moscow, with the title "Molecular Genetic Testing in a Clinical Setting" and "Molecular Genetics in Oncology".

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Amplexa starts providing NGS testing panels for various disorders such as Familial Breast cancer, HNPCC, Osteogenesis Imperfecta and Epilepsia. The list is under constant development based on customer demands.

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Amplexa and Helixxa put forth joint interests in supplying Brasil patients with molecular genetic tests.

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During the recent congress on mastology "8a Jornada Paulista, Mastologia 2012" from the 22- 24 of November in Sao Paulo Amplexa Genetics participated with a talk on recent advances in the molecular genetics of breast cancer with the presentation "Inherited breast and ovary cancers".

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Amplexa enjoyed meeting partners and colleges at the ASHG 2012 meeting in San Francisco.

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CeGaT GmbH and Amplexa Genetics A/S are pleased to announce they are entering into a collaborative partnership to provide a wider range of clinical genetic testing services to increase the number of disorders that they can offer for testing to physicians and their patients.

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Amplexa attends ESHG 2012 in Nürenberg. We hope to meet and interact with colleagues and friends.

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Amplexa initiates cooperation with Biotexcel consulting further expanding our interface with experts in the field.

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Amplexa pursues its investments in cutting edge technology with achievement of NGS platforms. With the capability to perform massive parallel sequencing using PGM (Personal Genome Machine) the construction of panels for cancer, epilepsy or population specific gene variant panels are now at hand. Acquisition of Ion Torrent technology further allows whole genome CNV detection, RNA seq, ChipSeq and numerous other applications.

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Amplexa initiates cooperation with SwissChekUp providing analysis of breast and colon cancer to the healthcare sector in Switzerland.

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As part of our solutions in diagnosing individuals with various epilepsies Amplexa has established analysis of the PCDH19 gene. Mutations in PCDH19 has been reported in SCN1A negative patients with Dravet like symptoms and in patients with severe self destructive aggressive behaviour.

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The contribution of SCN1A mutations to the manifestation of SMEI has been firmly established. It has further been shown that approximately 15% of all SMEI cases caused by SCN1A mutations represents large deletions. To optimise our testing panel Amplexa now launches a MLPA based analyses for major deletions and duplications of SCN1A.

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Amplexa Genetics is collaborating in a study aimed to search for susceptibility genes in generalized idiopathic epilepsy in the population of the Faroe Island. Other participants are The Danish Epilepsy Centre, The National Hospital on the Faroe Islands and the Copenhagen University Hospital. The project has obtained economical support from The Faroese Research Counsil and the Lundbeck Foundation.

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Tests for mutations of the ALDL gene has been established. Mutation in this gene results in hypophosphatasia. The test provided is a screen of all exons and exon-intron boundaries. Thus the test allows the analysis of all familial known mutations and a test of any new mutation in a previously not characterized family.

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Tests for mutations of the SCN2A gene have been established. Mutations in this gene results in an epileptic phenotype with benign familial neonatal-infantile convulsions. The test provided is a screen of all exons and exon-intron boundaries. Thus the test allows the analysis of all familial known mutations and a test of any new mutation in a previously not characterized family.

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To complement the all ready existing test related to HNPCC Amplexa establishes a a genetic screening test for the entire MSH6 gene. MSH6 has previously been demonstrated to be related to HNPCC with MSI-low tumors.

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Tests for mutations of the ALDH7A1 gene have been established.Mutations in the ALDH7A1 gene results in an epileptic phenotype with Pyridoxine-dependent epilepsy, characterized by a combination of various seizure types.

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As a supplement to our other thrombosis tests we now expand our analysis panel to include tests for Protein C (PROC) and Protein S (PROS). Together with our tests for the Factor V Leiden (FVL), Prothrombin 20210G>A and Methyl-Tetrahydrofolate Reductase 677C>T (MTHFR) genetic variants. PROC is a vitamin K-dependent plasma glycoprotein that is a key component of the anticoagulant system.

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Tests for mutations of the LGI1 gene have been established. Mutations in the LGI1 (Leucine-rich, glioma inactivated 1) gene results in an epileptic phenotype with autosomal dominant lateral temporal epilepsy (ADLTE) characterized by auditory auras and focal seizures. The test provided is a screen of all exons and exon-intron boundaries. Thus the test allows the analysis of all familial known mutations and a test of any new mutation in a previously not characterized family.

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Tests for mutations of the CSTB gene have been established. Mutations in the CSTB (Cystatin B) gene results in an epileptic phenotype with progresiv myoclonic epilepsy (EPM1). The test provided is a screen of all exons and exon-intron boundaries. Thus the test allows the analysis of all familial known mutations and a test of any new mutation in a previously not characterized family.

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Tests for mutations of the GABRG2 gene have been established. Mutations in this gene results in an epileptic phenotype with generalized epilepsia with febrile seizures GEFS+1 and Severe myoclonic epilepsy in infancy (SMEI). The test provided is a screen of all exons and exon-intron boundaries. Thus the test allows the analysis of all familial known mutations and a test of any new mutation in a previously not characterized family.

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Tests for mutations of the SCN1B gene have been established. Mutations in this gene results in an epileptic phenotype with generalized epilepsia with febrile seizures GEFS+1. SCN1B has additionally been shown to be the cause of Brugada syndrome 5. The test provided is a screen of all exons and exon-intron boundaries. Thus the test allows the analysis of all familial known mutations and a test of any new mutation in a previously not characterized family.

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Tests for mutations of the NHLRC1 gene have been established. Mutations in this gene results in an epileptic phenotype with Lafores disease. The test provided is a screen of all exons and exon-intron boundaries. Thus the test allows the analysis of all familial known mutations and a test of any new mutation in a previously not characterized family.

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Tests for mutations of the SCN1A gene have been established. Mutations in this gene results in an epileptic phenotype ranging from GEFS+ to SMEI (Dravets syndrome). The test provided is a screen of all exons and exon-intron boundaries. Thus the test allows the analysis of all familial known mutations and a test of any new mutation in a previously not characterized family.

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To extend the scope of endocrinology related analysis provided Amplexa Genetics A/S now launches test for Rickets including test for mutations in PHEX, FGF23, CLCN5, CYP27B1, SLC34A3 and DMP1. The tests provided are a screen of all exons and exon-intron boundaries. Thus the tests allows the analysis of all familial known mutations and tests of any new mutation in a previously not characterized family.

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Tests for mutations of the Col1A1 and Col1A2 genes have been established. Mutations in these two very large genes results in Osteogenesis Imperfecta. The test provided is a screen of all exons and exon-intron boundaries. Thus the test allows the analysis of all familial known mutations and a test of any new mutation in a previously not characterized family.

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Amplexa Genetics A/S adds a test for Di George disease to its panel of tests. Absence or dysfunction of the parathyroid glands is one of the components of chromosome 22q11 microdeletion syndrome DiGeorge. DiGeorge syndrome is a childhood disease in which hypoparathyroidism occurs due to a total absence of the parathyroid glands at birth. The test is a test for deletions in the critical region on chromosome 22.

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Amplexa Genestics A/S extends the number of endocrinology related tests to include test for PTHR1, the cause of Familial isolated Hypoparathyroidism. The test extends Amplexa Genetics A/S´s panel of tests related malfunction of Calcium homeostasis.

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The test panel has been expanded to include analysis for Cystic Fibrosis. The test that Amplexa Genetics A/S offers is a test for either known familial or population specific mutations, or a screening of the entire gene for unknown variants. As the number of known variants exceeds 1.500 different mutations this latter option is highly relevant in any family or individual in which a mutation has not previously been described.

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