CLINICAL GENETICS

THE FIRST STEP IS A CLEAR DIAGNOSIS

One of the main challenges of current genetic medicine is supporting clinical diagnosis and providing preventive health care actions.
Amplexa develops comprehensive clinical genetic tests. We offer several specific Next Generation Sequencing Panels (NGS).

Select the area of ​​interest in the tabs below.

CONNECTIVE TISSUE:

The Ehlers-Danlos syndrome (EDS) is a group of hereditary disorders of connective tissue that vary in how they affect the body and their genetic causes. The underlying reason is collagen's abnormal structure or function standard structure or function of collagen and specific allied connective tissue proteins.

A diagnostic test based on NGS of multiple genes associated with a disease, condition, or phenotype related to connective tissue.

EXOME TRIO ANALYSE:

Trio analysis studies the complete exome of the patient and parents (patient-father-mother), searching for relevant evidence for the cause of a disease or medical condition.

A diagnostic test based on NGS of multiple genes associated with a disease, condition, or phenotype. Adaptable to any medical specialty.
THROMBOPHILIA:

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. 

FAROE-PANEL:
The test 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.