Based at Royal Brompton Hospital, the Clinical Genetics and Genomics laboratory offers diagnostic testing for families and individuals at risk of inherited diseases.
The team of clinical experts assess whether the symptoms displayed by a patient are related to an inherited disease, which could be life-threatening. The testing includes next-generation sequencing (NGS) to improve the diagnosis of inherited cardiac and respiratory conditions.
We are an accredited medical laboratory (ISO 15189)
Led by Dr Deborah Morris-Rosendahl, 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 specialties and an advanced nursing team, who are all based at our hospitals. This ensures that patients receive professional advice, both before testing is offered and after a result has been issued.
If a patient is diagnosed with a genetic disease the team help them to understand the cause, which may be due to a change in a particular gene. This then leads to the possibility of testing family members too.
Diagnosing inherited cardiac conditions
Our laboratory developed from a translational research project with the Cardiac Biomedical Research Unit at Royal Brompton Hospital and the National Heart and Lung Institute at Imperial College London.
This collaboration led to the development of a new gene panel which simultaneously tests 174 genes known to be associated with cardiac conditions. Our hospital was the first to adopt this gene panel to diagnose a multitude of ICC quickly and accurately.
Our lab is already processing up to 1,000 samples for inherited heart conditions per year and this continues to expand. Royal Brompton Hospital is the only genetic testing facility able to test for all known genetic heart conditions using a single test that takes just half the time of similar services available elsewhere.
Why refer for molecular genetic analysis?
- To confirm or support a clinical diagnosis in an affected individual.
- To inform and direct the clinical patient care.
- To determine carrier status and/or the risk of developing symptoms in a relative of an affected individual.
How long does it take?
We aim to issue results for the ICC NGS assay within 16 weeks of receipt of the specimen, as per guidelines. Results of familial screening by Sanger DNA sequencing will be issued within four weeks of receipt of the specimen.
Our comprehensive inherited cardiovascular conditions service encompasses:
- familial hypercholesterolaemia
- pulmonary hypertension.
This service covers adults, children and pregnancy. Patients can be seen individually or in one of our family clinics which cater for people with inherited conditions.
Testing for inherited lung conditions
A new gene panel that allows testing for 173 genes associated with a range of lung conditions and lung cancer has also been developed by our laboratory. The panel is currently being validated, which will see the lab a step closer to becoming a world-leading centre for cardiac and respiratory genetic testing.
Dr Deborah Morris-Rosendahl
Head of Clinical Genetics & Genomics Laboratory
“Nearly all diseases have some genetic component, but there are certain ones that are very strongly influenced and caused by genetic change. There are however many more diseases in which the genetic cause is not that clear. Patients are referred to us when a clinician thinks that a condition the patient has may be inherited. We see if we can find the genetic cause. We are a specialist hospital for cardiac and respiratory diseases, so there’s a very large patient population who would like to have, and could benefit from, genetic testing.”