OVERVIEW
Hereditary lung diseases can affect lungs, liver and/or skin. Common disorders are alpha-1-antitrypsin (AAT), cystic fibrosis (CF), interstitial lung disease, pulmonary alveolar microlithiasis and pulmonary arterial hypertension (PAH).
AAT deficiency can result in destruction of sensitive lung tissue. Symptoms can appear early in life, but many will develop at middle-age, including shortness of breath, excessive cough, wheezing, decrease in exercise capacity and chest pain that increases when breathing in. Additionally, the liver can be affected by AAT deficiency. Cystic fibrosis affects the cells that produce mucus, sweat and digestive juices and causes severe damage to the lungs, digestive system and other organs in the body. Symptoms include chronic pulmonary symptoms and gastrointestinal symptoms but also male infertility. Pulmonary arterial hypertension is a condition of increased blood pressure within the arteries of the lungs. PAH may be associated with other diseases, such as connective tissue diseases, HIV infection or liver disease. The symptoms are mostly non-specific such as fatigue, exhaustion and difficulty exercising. Early identification of individuals at risk can help establish the right clinical management plan.
We offer comprehensive and syndrome-specific panels testing for lung diseases. The test can offer a molecular genetic diagnosis of a lung disorder that is observed or predicted in you or a family member.
IMPORTANCE OF GETTING TESTED
If you or a family member has a risk of a lung disease, identifying the cause can help to take actions to improve the outcome of the disorder. Additionally, family members can be informed and encouraged to also get tested. Our genetic counsellors can provide medical advice.
You had an unexplained
right ventricular failure/dilation
You are a young person with COPD
(chronic obstructive pulmonary disease)
or liver disease
You have a connective tissue disease,
HIV infection or liver disease and
want to test the risk of pulmonary hypertension
POSSIBLE OUTCOMES OF THE TEST
A molecular genetic diagnostic report outlining the results of the sequencing analysis is provided. Changes in DNA sequences (variants) can be detrimental and lead to the development of a cardiac or aortic disorder, including asymptomatic disorders that develop later in life. We will report pathogenic and likely pathogenic variants as well as variants of unknown significance.
Pathogenic and likely pathogenic variants mean the genetic cause of the observed symptoms has been identified and may help determine the right treatment and management plan.
Variants of unknown significance means there was not enough evidence to classify the variant as either pathogenic or neutral. Annual variant reclassification and testing family members is recommended.
It is important to note that a negative result does not guarantee the absence of a disorder or that the disorder does not have a genetic cause. Genetic testing is an evolving field and may not detect all variants or there may not currently be enough evidence to classify all variants that lead to an inherited disease.
