Test Directory

Arrhythmia, hereditary (33 Genes)

Arrhythmogenic right ventricular cardiomyopathy (12 Genes)

Cardiomyopathy, dilated (44 Genes)

Cardiomyopathy, hypertrophic (31 Genes)

Cicardian rhythm variations (22 Genes)

Ehlers-Danlos syndrome, Marfan syndrome, Familial Thoracic Aortic Aneurysm Dissection & Arterial tortuosity syndrome (70 Genes)

This panel analyses key genes associated with heritable connective tissue and aortopathy disorders, including Ehlers-Danlos syndrome, Marfan syndrome, Familial Thoracic Aortic Aneurysm/Dissection, and Arterial Tortuosity Syndrome. Pathogenic variants in these genes can predispose individuals to vascular fragility, arterial aneurysm and dissection, and systemic connective tissue manifestations. Testing supports early diagnosis, risk stratification, and family screening, enabling timely surveillance and management of cardiovascular complications.

Fabry disease

Fabry disease is a rare, inherited lysosomal storage disorder caused by mutations in the GLA gene, leading to deficient activity of the enzyme alpha-galactosidase A. This results in the accumulation of globotriaosylceramide (Gb3) in various tissues, causing progressive multi-organ damage.

Long QT syndrome (17 Genes)

Marfan syndrome and related disorders (39 Genes)

Our Marfan Syndrome and Related Disorders Panel is a comprehensive genetic test designed to identify inherited variants associated with connective tissue disorders, including Marfan syndrome, Loeys-Dietz syndrome, Ehlers-Danlos syndrome, familial thoracic aortic aneurysm and dissection (FTAAD), and other related conditions. This panel analyzes 39 clinically relevant genes, including FBN1, TGFBR1, TGFBR2, TGFB2, TGFB3, SMAD3, ACTA2, MYH11, COL3A1, COL5A1, and COL5A2, which are associated with disorders affecting the cardiovascular system, skeleton, skin, eyes, and connective tissues.

Myocardial Infarction, familial (33 Genes)

Sudden death, incl. cardiac arrhythmias (86 Genes)