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.

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)
  • ciliopathy
  • 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.

Professional service

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’s pages on Royal Brompton and Harefield NHS Foundation Trust’s website give information on how to refer your private patients for genetic testing and further information about ICCs, for patients.


Find out more

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Get in touch

To contact the laboratory directly, please use the details below:

Telephone: +44(0)207 352 8121, ext 83009

Email: geneticslab@rbht.nhs.uk (for general enquiries) or email rbh-tr.genomics@nhs.net (for referral forms or patient data).


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