CLINICAL GENETICS

THE FIRST STEP IS A CLEAR DIAGNOSIS

One of the main challenges of current genetic medicine is to support clinical diagnosis and provide preventive actions in health care.
Amplexa develops clinical genetic tests with a very wide coverage in the capacity to evaluate genes, offering several specific Next Generation Sequencing Panels (NGS).

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

NEUROLOGY PANELS

The medical specialty concerned with the diagnosis and treatment of disorders of the nervous system, which includes the brain, the spinal cord, and the nerves.

Diagnostic test based on NGS of multiple genes associated with a disease, condition or phenotype of neurological origin.

CONNECTIVE TISSUE:

The Ehlers-Danlos syndromes (EDS) are a group of hereditary disorders of connective tissue that are varied in the ways they affect the body and in their genetic causes. The underlying concern is the abnormal structure or function of collagen and certain allied connective tissue proteins.

Diagnostic test based on NGS of multiple genes associated with a disease, condition or phenotype related with connective tissue 

EXOME TRIO ANALYSE:

Trio analysis studies the complete exome of the patient and parents (patient-father-mother) in search of relevant data for the diagnosis of a disease or medical condition.

Diagnostic test based on NGS of multiple genes associated with a disease, condition, or phenotype. Adaptable to any medical specialty.
THROMBOSIS:
The formation or presence of a blood clot in a blood vessel. The vessel may be any vein or artery as, for example, in a deep vein thrombosis or a coronary (artery) thrombosis. The clot itself is termed a thrombus.

Diagnostic test based on NGS of multiple genes associated with a disease, condition, or phenotype related with thrombosis.
FAROE-PANEL:
The test includes screening for 16 variants in 12 of the most common recessive inherited disorders in the Faroese population.

Diagnostic test based on NGS of multiple genes associated with a disease, condition, or phenotype in the Faroese population.