THE FIRST STEP IS A CLEAR DIAGNOSISOne of the main challenges of current genetic medicine is supporting clinical diagnosis and providing preventive health care actions.
Amplexa Genetics develops comprehensive clinical genetic tests. We offer several specific panels based on Next Generation Sequencing (NGS).
EXOME TRIO ANALYSIS:Trio exome analysis of family pedigrees (patient-father-mother) based on NGS offers a powerful approach to identify causal mutations for inherited diseases or medical conditions. This analysis can be used to identify variants inherited from the parents causing recessive disease or dominant disease. Trio exome analysis, using whole exome sequencing, enables analysis of thousands of genes to identify genetic alterations.
Amplexa Genetics offers the trio exome analysis, and this diagnostic test can be adaptable to any medical specialty.
EHLERS-DANLOS SYNDROME - CONNECTIVE TISSUE:Ehlers-Danlos syndromes (EDS) are a group of hereditary disorders of connective tissue supporting the skin, joints, blood vessels, and many other organs and tissues. The underlying cause is an abnormal structure or function of collagen and proteins that provide strength and elasticity.
Amplexa Genetics offers screening solution for EDS with a designed panel consisting of 41 genes.
Thrombophilia is a group of multicausal disorders in which blood has an increased tendency to clot. Thrombophilia is associated with a high risk of developing deep venous thrombosis and/or venous thromboembolism.
Genetic testing can be used to confirm the diagnosis and Amplexa Genetics offers a screening solution for the genes causing thrombophilia.
Amplexa Genetics offers this panel which includes screening for 16 variants in 12 genes associated with the most common recessive inherited disorders in the Faroese population.
A diagnostic test based on NGS of multiple genes associated with a disease, condition, or phenotype common in the Faroese population.