Test Directory

Arrhythmia, hereditary (33 Genes)

Arrhythmogenic right ventricular cardiomyopathy (12 Genes)

Brugada syndrome (9 Genes)

Cardiomyopathy, dilated (44 Genes)

Cardiomyopathy, hypertrophic (31 Genes)

Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiomyopathy, affecting ~1 in 500 individuals worldwide. It is characterised by unexplained left ventricular hypertrophy with risks of heart failure, arrhythmias, and sudden cardiac death. HCM is primarily inherited in an autosomal dominant pattern, with >50% of cases having an identifiable genetic cause. Our 31-gene HCM panel analyses sarcomeric and sarcomere-associated genes, as well as genes for metabolic and infiltrative disorders that can mimic HCM, supporting accurate diagnosis, risk stratification, and family screening.

Catecholaminergic polymorphic ventricular tachycardia (3 Genes)

Cerebral Small Vessel Disease, Familial

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)

Pan-Cardiomyopathy (Comprehensive) - NGS

The Pan-Cardiomyopathy (Comprehensive) NGS Panel is a targeted next-generation sequencing assay designed to analyse over 300 genes associated with a broad spectrum of inherited cardiomyopathies and related cardiovascular disorders. This comprehensive panel offers a cost-effective, high-throughput approach for the molecular diagnosis of all major cardiomyopathy subtypes including; HCM, DCM, ARVC, RCM, LVNC and Channelopathies.

Sudden death, incl. cardiac arrhythmias (86 Genes)