What is genetic testing?
There are many types of inherited heart and lung conditions, including cardiomyopathy, arrhythmia, aortopathy, familial hypercholesterolaemia, cystic fibrosis, interstitial lung disease, and primary ciliary dyskinesia. These conditions can run in families and may not always present symptoms until later in life. Genetic testing helps us identify whether you or a family member may have inherited a condition, enabling earlier diagnosis, management and intervention.
During a genetic test, we analyse a sample of your DNA to look for specific changes linked to inherited heart or lung conditions. One of our genetic specialists will guide you through the process, explain the results clearly, and support you with personalised recommendations for ongoing care or further assessment if needed.
Our genetics experts at Royal Brompton and Harefield hospitals work closely with leading cardiology and respiratory teams to deliver joined-up, compassionate care. We use the latest genomic technologies to support early diagnosis, inform family screening, and help you take control of your health with confidence.
Experts in genetic testing
Our world-leading genetic specialists offer:
- short-notice appointments, available in as little as 24 hours
- advanced testing, including next generation testing for inherited conditions
- a personalised treatment plan
Why is genetic testing performed?
Genetic testing may be recommended if you or a family member have signs of an inherited heart or lung condition or a relevant family history.
Testing can help confirm a diagnosis, clarify your risk of developing a condition, or determine whether you could pass it on to your children. It may also be carried out to guide clinical management, inform screening of family members, or explain the cause of certain symptoms.
By identifying specific genetic variants through next generation sequencing (NGS) and copy number analysis, we can provide accurate, personalised information that supports early intervention and lifelong care planning.
Types of genetic testing we offer
We use advanced next generation sequencing, including copy number variant analysis, to improve the diagnosis of both inherited cardiac conditions and inherited respiratory conditions and one of our clinical genetics specialists will support you throughout the process — from pre-test counselling to explaining results and guiding next steps in your care.
Our genetics service at Royal Brompton and Harefield hospitals is supported by a UKAS-accredited laboratory (ISO15189:2012), which works in close collaboration with clinical geneticists, cardiologists, respiratory consultants and specialist nurses.
We are actively involved in cutting-edge genomics research through our partnership with the National Heart and Lung Institute at Imperial College London, helping to advance future care while providing patients with the highest standards of diagnostic expertise today
What conditions can genetic testing identify?
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
Related services
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Congenital heart disease
Congenital heart disease is a collective term for a range of birth defects that affect the heart. Learn more about how it is diagnosed and treated.
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Congenital lung malformation
Congenital lung malformation: Symptoms, causes and treatments
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Arrhythmia (abnormal heart rhythm)
Arrhythmia is an abnormal heart rhythm, where the heart’s normal rhythm is disrupted.
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Hypertrophic cardiomyopathy
Hypertrophic cardiomyopathy is the most common form of genetic heart disease, where unusual thickness of the heart muscle makes it harder for the heart to pump blood.
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Inherited cardiac conditions
Inherited cardiac conditions are a group of genetic disorders that affect the heart and major vessels.
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Primary ciliary dyskinesia (PCD)
Primary ciliary dyskinesia (PCD) is a rare disorder in which the airways of the lungs become infected due to abnormalities of the cilia.
Locations
Our genetic testing specialists are based in the following location:
Meeet our team of clinical geneticist
From inherited arrhythmias to cystic fibrosis, our genetics experts can provide fast, accurate diagnosis using advanced next generation sequencing technology.
Book an appointment today
Call us on 020 3131 5379 to book your appointment today.
Alternatively, fill in our online enquiry form below and we will get back to you as soon as we can.