The Pulmonary Genetics Clinic at Al Jalila Children’s Specialty Hospital is a comprehensive service aimed at improving the lives of all children who have a pulmonary condition with a suspected underlying genetic basis for that condition. In this clinic, a pulmonologist will be assisted by a genetic counsellor.
This clinic will involve a comprehensive consultation of the patient and discussion of genetic testing as appropriate. A genetic counsellor will be available to families for pre-test counseling regarding genetic testing, the genetic basis of disease, discuss all possible outcomes including what a positive result may mean for the family and also the benefits and limitations of genetic testing.
We offer consultation and examination for all children with a suspected genetic condition leading to pulmonary disease such as respiratory distress, excessive mucus accumulation, chronic cough or wheeze, bronchiectasis, surfactant deficiency, alveolar capillary dysplasia, chronic lung obstruction, and chronic otosinopulmonary infection. In particular we test for the follow conditions, however this is not an exhaustive list of conditions evaluated in our clinic.
Cystic fibrosis is a progressive genetic condition that affects multiple organ systems including the lungs and digestive tract. The condition is caused by a build of thick mucus that the body is not able to easily expel. Cystic fibrosis is caused by a gene called CFTR. Genetic testing can identify changes in the CFTR gene that can cause cystic fibrosis.
Primary ciliary dyskinesia
Primary ciliary dyskinesia (PCD) is a rare condition that affects our “cilia” which are small hair-like structures that line our lungs and other organs. The cilia are responsible for moving small particles such as dust, bacteria or other foreign objects out of our lungs. When there is a problem with the cilia, it can lead to infections and other medical complications. Genetic testing can identify the genetic basis of PCD.
Pulmonary Arterial Hypertension (PAH)
This condition is characterized by increased blood pressure in the arteries that connect the heart to the lungs. This condition can present with many symptoms including dyspnoea, fatigue, chest pain, syncope, leg oedema, and palpitations. We offer genetic testing for the multiple genetic causes of PAH.
Neonatal Respiratory Distress
Neonatal Respiratory Distress is a breathing condition that can affectbabies who are born prematurely. Symptoms include cyanosis, rapid and shallow breathing, nasal flaring, and apnoea. There are numerous genes known to cause this condition. We offer genetic testing for these genes to helpmake an accurate diagnosis.
What makes us different?
This multidisciplinary clinic offers a comprehensive approach to the diagnosis of with pulmonary conditions with a genetic basis. We ensure that families understand the purpose, benefits and limitations of genetic testing before it is ordered. Our team will also discuss the genetic test report and implications of a positive test.
With numerous specialties within Al Jalila Children's, our team can make the appropriate referrals within the hospital, creating a coordinated healthcare plan between the different departments.