For patients affected by disorders related to pulmonary function, our assays provide insights to confirm diagnosis and direct care. Offering testing for cystic fibrosis, primary ciliary dyskinesia, and alpha-1-antitrypsin deficiency, our clinically meaningful assays are backed by a team of genetic testing experts. In addition to providing diagnostic clarity, results from our testing can also help determine the need for familial screening.
Pulmonology Test menu
Cystic fibrosis (CF) typically presents as a severe autosomal recessive disease that causes chronic obstructive lung disease and pancreatic enzyme insufficiency. CF can also present atypically, manifesting solely as congenital absence of the vas deferens or chronic idiopathic pancreatitis. If a clinical CF diagnosis is made or suspected, analysis of the CFTR gene may be used to confirm genetic diagnosis and make familial testing options available. Genetic confirmation can also support the selection of CFTR potentiator therapies, which may improve outcomes for patients affected by CF with at least one copy of a select subset of variants.
A deficiency of alpha-1-antitrypsin (A1A), which is a protein that helps protect against tissue degradation in the lungs, is associated with an increased risk for early-onset panlobular emphysema. Unlike smoking-related emphysema, which impacts the upper lung fields, panlobular emphysema initially affects the lung bases and causes symptoms in patients during their 30s and 40s. When serum A1A levels are identified as deficient and cannot be explained by routine testing, genetic testing can provide clarity.
Primary ciliary dyskinesia (PCD) is a rare genetic condition that presents with symptoms often mistaken for common respiratory illnesses, making diagnosis challenging. Early identification of the disorder, which is characterized by defects in the form and/or function of the body’s cilia resulting in chronic otosinopulmonary disease and infertility in men,1 is critical to delay or prevent damage to the lungs.
To provide the most accurate picture of a patient’s condition, we offer both electron microscopy evaluation (EM) and genetic testing to confirm a PCD diagnosis.
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