Amplexa Genetics

Cutting-edge, highly usable tests for medical diagnosis.

Amplexa Genetics History

Founded in 2006, Amplexa Genetics is one of the world’s longest-existing private genetic laboratories. The company is among the pioneers in the sale of genetic analyzes. We have always focused on high quality and usability in our work, and we know how important it is for our survey results!

Mission

Our mission is to provide knowledge that can help individuals make decisions. Whether you are private or professional, the results of our research help you plan what your family should look like or what treatment to choose for your patient.

Vision

Our vision is to develop our position as an internationally recognized partner and supplier of functional genetic analyses and become the field’s favorite.

Strong Professional And Scientific Foundation

Amplexa Genetics, together with recognized and respected scientific experts, has developed more than 100 different clinical genetic tests. They are mainly distributed in neurology, endocrinology, cardiology, and oncology. The tests we perform cover highly significant genes where the published scientific literature supports the disease-causing consequence of variants in the genes.

Advisory Board

Amplexa Genetics has a strong network of specialists with competencies in genetics and genetic research – they are available with help in interpreting unique variants or variants that are difficult to interpret.

Rikke Steensbjerre Møller, Cand.scient, Ph.d

Head of Genetic Research, Danish Epilepsy Center Filadelfia, Dianalund

Latest Technology

Amplexa Genetics applies state-of-the-art instrumentation and cutting edge technologies combined with inhouse developed bioinformatic pipelines.

We use novel Next Generation Sequencing (NGS) platforms and Sanger sequencing (Standard Capillary Electrophoresis) for verification of our routine disease exome and panel screening and clinical exome and panel analyses.
We deliver Single cell RNA sequencing and expression profiling as well as ATAC sequencing for chromatin accessibility and epigenetic regulation. This is performed on the latest technolgies available like 10X Genomics and Parse Evercode etc. This is combined with a strong bioinformatic team for data processing and visualization.

Study of biological samples, both in bulk and at a single-cell level.
Solutions for transcriptomic explorations and discoveries. Amplexa has experience from various field of science, techniques, and bioinformatic approaches for unraveling the transcriptomic profile.
A complete package, from helping you set up your experiment to unlock the full potential to interpreting the analyzed results and generating publishable figures. We also acknowledge researchers’ wish to make their own interpretations of the data and therefore offer a fast and easy solution for secure data transfer.

Some Of Our Publications And Scientific Studies

October 2024

Applying cellular fixation and cell-type isolation for single-cell sequencing

Amplexa has supported Prof. Ditte C. Andersens-group in applying and validating a novel technique for cell isolation for single-cell sequencing that allows the samples to be stored at -80 degrees for a prolonged period before further single-cell library preparation.

September 2024

Epilepsy as a Novel Phenotype of BPTF-Related Disorders

Background: Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies (NEDDFL) is associated to BPTF gene haploinsufficiency. Epilepsy was not included in the initial descriptions of NEDDFL, but emerging evidence indicates that epileptic seizures occur in some affected individuals. This study aims to investigate the electroclinical epilepsy features in individuals with NEDDFL.

September 2023

D-galactose Supplementation for the Treatment of Mild Malformation of Cortical Development with Oligodendroglial Hyperplasia in Epilepsy (MOGHE): A Pilot Trial of Precision Medicine After Epilepsy Surgery

MOGHE is defined as mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy. Approximately half of the patients with histopathologically confirmed MOGHE carry a brain somatic variant in the SLC35A2 gene encoding a UDP-galactose transporter.

September 2023

A new neurodevelopmental disorder linked to heterozygous variants in UNC79

Purpose: The “NALCN channelosome” is an ion channel complex that consists of multiple proteins, including NALCN, UNC79, UNC80, and FAM155A. Only a small number of individuals with a neurodevelopmental syndrome have been reported with disease causing variants in NALCN and UNC80. However, no pathogenic UNC79 variants have been reported, and in vivo function of UNC79 in humans is largely unknown.

August 2023

IRF2BPL as a novel causative gene for progressive myoclonus epilepsy

IRF2BPL has recently been described as a novel cause of neurodevelopmental disorders with multisystemic regression, epilepsy, cerebellar symptoms, dysphagia, dystonia, and pyramidal signs. We describe a novel IRF2BPL phenotype consistent with progressive myoclonus epilepsy (PME) in three novel subjects and review the features of the 31 subjects with IRF2BPL-related disorders previously reported.

August 2023

GABRA1-Related Disorders: From Genetic to Functional Pathways

Objective: Variants in GABRA1 have been associated with a broad epilepsy spectrum, ranging from genetic generalized epilepsies to developmental and epileptic encephalopathies. However, our understanding of what determines the phenotype severity and best treatment options remains inadequate. We therefore aimed to analyze the electroclinical features and the functional effects of GABRA1 variants to establish genotype-phenotype correlations.