Genetic and Genomic tests

The specialist genetic and genomic services are supported by the ‘state of art’ latest genetic and genomic tests carried out by leading genetic and genomic laboratories. All laboratories are validated and approved by the UK Genetic Testing Network ( and EuroGeneTest ( Our range of latest sophisticated genomic tests include targeted next generation sequencing (NGS) molecular diagnostics for a wide range of common and rare genetic and genomic disorders, for example breast/ovarian cancer, colo-rectal cancer, epilepsy, developmental delay/autism and learning difficulties, multiple malformation dysmorphic syndromes and cardiovascular genetic diseases including stroke and blood diseases.

Table: Next Generation Sequencing testing panel ( for Cardiovascular Genetics

Cardiomyopathies Dilated cardiomyopathy 78 genes
Hypertrophic cardiomyopathy 55 genes
Left ventricular non-compaction cardiomyopathy 23 genes
Arrhythmogenic cardiomyopathy 14 genes
Cardio-facio-cutaneous syndrome (Noonnan, Costello, Leopard, etc) 10 genes
Channelopathies Long QT syndrome 22 genes
Short QT syndrome 8 genes
Catecholamineric polymorphic VT 7 genes
Brugada syndrome 17 genes
J wave syndrome 17 genes
Cardiac conduction disease 18 genes
Atrail fibrillation (research only) 14 genes
Others Congenital heat diseases 16 genes
Pulmonary hypertension 9 genes
Familial hyper cholesterolemia 6 genes
Skeletal myopathy 28 genes
Aorta panel Marfan syndrome, Loeys Dietz Syndrome, TAAD, Ehlers-Danlos syndrome, Shprintzen-Golberg syndrome etc 30 genes
Sudden death panel Autopsy-negative sudden unexplained death 195 genes

Each NGS panel is tailor made comprising the maximum number of pathogenic specific gene mutations and known disease causing genomic variants with highest possible combined sensitivity and specificity (see Table for selected genetic cardiovascular diseases). The NGS diagnostic panels are generally extensive but we can offer at very competitive costs.

In addition to testing, we offer pre and post testing counselling and support compared to those provided through non-specialist clinics or directly by the genetic/genomic laboratory. The genome clinic will ensure fair and accurate interpretation of all genetic/genomic test reports. Each report is carefully validated and professionally produced by the respective accredited genetic and genomic laboratory.