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 (www.ukgtn.nhs.uk) and EuroGeneTest (www.eurogenetest.org). 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 (www.healthncode.com) 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.