TEST CODE: 008842

DIAGNOSTIC TEST FOR: PULMONOLOY

TURNAROUND TIME: 10–21 calendar days (14 days on average)

PREFERRED SPECIMEN: 3mL whole blood in a purple-top tube

ALTERNATE SPECIMENS: DNA or saliva/assisted saliva

Genetic testing for Pulmonology

Our panels include over 3,900 genes selected based on curated gene reviews, variant databases (HGMD and ClinVar), most recent literature, and customer requests. We offer enhanced clinical utility, maximized diagnostic yield, empowered differential diagnosis as well as analytically validated up-to-date genes across all our panels. Difficult-to-sequence genes are covered with high quality enabling true diagnostic impact in challenging patient cases.

Pulmonary diseases have high genetic heterogeneity with significant phenotypic overlap. Given the great number of genes and mutations underlying hereditary pulmonary diseases, NGS and multi-gene panels are often cost-effective primary options for genetic diagnostics for these diseases.

What genetic diagnostics can be offered to patients with Pulmonological diseases?

Genetic diagnostics are often the most efficient way to subtype hereditary pulmonary diseases, and they provide the necessary information to make confident individualized treatment and management decisions. Specifically, variation in the CFTR gene that causes cystic fibrosis, is targeted in this category. Screening may enable targeted, genotype specific therapies to improve CFTR function possible, as recommended by a recent publication (PMID: 26403534). In addition to cystic fibrosis, determining the exact underlying genetic defect in any hereditary pulmonary disease heavily affects genetic counseling and risk assessment.

Another example of the utility of genetic testing in hereditary pulmonary diseases is shown through primary ciliary dyskinesia (PCD) cases. PCD is a genetic disorder affecting the function of motile cilia. Clinically, PCD may present with neonatal respiratory distress, chronic coughing, and recurrent sinus or ear infections. In 15–50% of PCD cases, some or even all major visceral organs are reversed from their normal positions – the partial form called situs ambiguous/heterotaxy, and the complete form situs inversus. Genetic diagnosis helps in understanding a patient’s symptomology, and testing will differentiate it from cystic fibrosis, which may mimic the clinical presentation of PCD.

Identifying at-risk family members makes it possible to begin preventive treatments and/or make lifestyle recommendations. It also justifies routine follow-ups by health care professionals. Genetic diagnostics can help in family planning.

What are the benefits of genetic testing?

Genetic testing produces information that may help you or your healthcare provider:

– establish or confirm your specific diagnosis 


– provide an explanation of the underlying cause 
of your heart condition

– uncover potential risk of developing an underlying, multi-system condition that affects more than your heart 


– make informed medical decisions and provide an opportunity to start risk reduction strategies 


– identify other at-risk relatives for whom genetic testing is recommended 


– make informed family planning decisions 


Genomed’s Pulmonology panels

– Bronchiectasis Panel

– Central Hypoventilation and Apnea

– Comprehensive Pulmonology

– Cystic Fibrosis Panel

– Cystic Lung Disease Panel

– Hermansky-Pudlak Syndrome Panel

– Interstitial Lung Disease Panel

– Neonatal Respiratory Distress – Surfactant Dysfunction Panel

– Primary Ciliary Dyskinesia Panel

– Pulmonary Artery Hypertension (PAH) Panel

Please contact us for the complete list of genes included on the multi-Pulmonology panel and associated conditions.

What are the potential results?

A POSITIVE TEST RESULT CAN:

If testing identifies a variant associated with heart disease, consult with your healthcare provider to create a management plan and to identify relatives who may need to be tested.

A NEGATIVE TEST RESULT:

If testing identifies no variants associated with a hereditary heart disease, the underlying cause of your heart condition remains unknown. As our knowledge of genetics improves, additional genetic testing may become available.

AN UNCERTAIN VARIANT TEST RESULT:

In some cases, testing can identify a variant, but it is not known at this time whether the variant is associated with heart disease. If new information about your family history of heart conditions becomes available, this could change what your test results mean for you and your relatives. Always let your healthcare provider know if there are any updates regarding your family medical history.

Take action based on your results.

With Genomed, you can make health decisions based on your results. Our medical-grade tests are the same tests used by doctors and genetic counselors. Based on your results, you can work with your healthcare provider to consider:

– increased or earlier screenings

– lifestyle modifications

– early intervention to prevent the onset of disease