Genetic testing for inherited heart and lung disease

Based at Royal Brompton Hospital in London, the Clinical Genetics and Genomics laboratory offers diagnostic genetic testing for families and individuals at risk of inherited cardiac and respiratory disease.

Investigation details

We currently offer next generation sequencing (NGS), including copy number variant analysis, to improve the diagnosis of both inherited cardiac conditions (ICC) and inherited respiratory conditions (IRC). The service includes genetic testing for:

• aortopathy and connective tissue genes
• arrhythmia
• cardiomyopathy
• familial hypercholesterolemia
• molecular autopsy (sudden cardiac death, SCD)
• vasculopathy
• bronchiectasis, including cystic fibrosis (CF)
• respiratory ciliopathy, including primary ciliary dyskinesia (PCD)
• congenital respiratory conditions
• emphysema
• immunodeficiency
• interstitial lung disease (ILD)
• pulmonary hypertension
• other cardiac diseases and genes

Accreditation

The laboratory is a UKAS-accredited medical laboratory (ISO15189:2012). The laboratory actively participates in European Molecular Genetics Quality Network (EMQN) and UK National External Quality Assessment Service (NEQAS) Quality Assurance schemes.

The laboratory works with clinical geneticists, specialist physicians from a wide range of medical specialities and an advanced nursing team, who are all based at the Trust. This ensures that patients receive professional advice, both before testing is offered and after a result has been issued.

Genetics and genomics research

The work of the clinical group is closely aligned to academic research groups in the Trust’s cardiac and respiratory biomedical research units and the National Heart and Lung Institute at Imperial College London.

The laboratory page on Royal Brompton and Harefield NHS Foundation Trust’s website gives referrers information on how to refer private patients for genetic testing, and provides further information about ICCs (immunocytochemistry) for patients.