Genetic testing for inherited heart and lung disease

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, personalised management and potential intervention.

During a genetic test, we analyse a sample of your DNA to look for damaging changes in genes known to be 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.

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), 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. 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 clinical genetics service at Royal Brompton and Harefield hospitals is supported by a UKAS-accredited laboratory (ISO15189:2022), which works in close collaboration with clinical geneticists, genetic counsellors, 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.

What conditions can our genetic tests identify?

Inherited cardiac conditions

Aortopathy disorders

• Familial thoracic aortic aneurysm (FTAA)
• Elastin-related phenotypes

Arrhythmias

• Long QT syndrome (LQTS)
• Brugada syndrome (BrS)
• Catecholaminergic polymorphic VT (CPVT)
• Short QT syndrome
• Progressive cardiac conduction disease

Cardiomyopathies

• Hypertrophic cardiomyopathy (HCM)
• Dilated/arrhythmogenic cardiomyopathy (DCM/ACM)
• Arrhythmogenic right ventricular cardiomyopathy (ARVC)
• Sudden unexplained death or survivors of a cardiac event
• Paediatric or syndromic cardiomyopathy

Other cardiac conditions

• Generalised arterial calcification in infancy

Primary lymphoedema

• Primary Lymphoedema

Inherited respiratory conditions

Bronchiectasis, cystic fibrosis and ciliopathies

• Cystic fibrosis, CFTR full gene including introns
• Respiratory ciliopathies, including non-CF bronchiectasis
• Laterality disorders and isomerism (heterotaxy)

Congenital respiratory conditions

• Alveolar capillary dysplasia
• Central congenital hypoventilation syndrome
• Pulmonary alveolar microlithiasis (PAM)

Emphysema

• Αlpha-1-antitrypsin deficiency (AAT)

Interstitial lung disease (ILD)

• Childhood interstitial lung disease
• Familial pulmonary fibrosis

Pulmonary hypertension

• Pulmonary arterial hypertension

Vasculopathies

• Familial pneumothorax
• Hereditary haemorrhagic telangiectasia (HHT)

Our fully accredited genetics and genomics laboratory

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, genetic counsellors and 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 processes up to 5,000 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.

Testing for inherited lung conditions

Our laboratory is one of only a few worldwide delivering comprehensive genomic testing for rare respiratory conditions. The laboratory also performs cutting edge research on some of these conditions, leading to its reputation as a world-leading centre for cardiac and respiratory genetic testing.

Why refer for molecular genetic analysis?

You can see our specialists for a range of reasons, including:

• to confirm or support a clinical diagnosis in an affected individual
• to inform and direct the clinical patient treatment and 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 a screening test within 42 days of receipt of the specimen, as per guidelines. Results of targeted family testing are issued between 2-4 weeks of receipt of the specimen.

Our comprehensive inherited cardiovascular conditions service encompasses:

• aortopathies
• cardiomyopathy
• channelopathies/inherited arrhythmias
• familial hypercholesterolaemia
• molecular autopsy for sudden cardiac death
• paediatric or syndromic cardiomyopathy
• 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.

See our full reporting policy.

“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.”

– Dr Deborah Morris-Rosendahl, director of the clinical genetics and genomics laboratory