Pulmonary Genomics

The earlier clients can be tested, the better. If a client is concerned about the possibility of a future diagnosis, they should reach out to their primary care provider for guidance. That provider will most likely review certain personal history and background medical information to determine if testing would be appropriate. Some of the reasons for ordering this test include:

• Severe lung disease not responding well to treatment
• Family history of lung disease within three generations
• The lung disease with unusual features
• To plant better therapeutic management based on genetic cause

Primary physicians should first conduct a pre-test genetic counseling session with their patients before referring them for testing. This is so all the appropriate questions are answered about the potential benefits and limitations of the test. There will then be a trained laboratory technician that will collect a whole blood sample or buccal swab of the client into a specific testing container. That sample will then be sent to our labs in a safe, temperature-controlled setting.

Genomic DNA will be carefully extracted from the collected sample by our expert technicians using the latest technology. Our lab will then assess the quality and quantity of the sample for genetic markers using Next Generation Sequence. Our Bioinformatics tools will be implemented to understand the nature of any possible variants according to the guidelines set out by the American College of Medical Genetics (ACMG) and the Association for Molecular Pathology (AMP).

The presence of pathogenic or likely pathogenic variants is indicated as a “positive” result. A positive result in a person affected may suggest an inherited mutation. A positive result in an asymptomatic individual suggests the possibility of potential high-risk, which could mean the need for either nutritional, therapeutic, or lifestyle interventions to reduce the risk of future diagnosis.

The presence of benign or likely benign variants is indicated as a “negative” result. This will inform the client’s physician on possible next steps, including evaluating other non-genetic causes for the specified phenotype. Post-test genetic counseling is suggested to help decide whether other members of the client’s family need to undergo this same genetic testing.

At MicroGen Health, we strive to provide only evidence-backed test results using experienced technicians and experts with the latest technology. We protect our client’s privacy according to industry standards and seek to have a professional customer interaction each and every time. If you would like to begin your test or have any other questions, please reach out to our team using our contact page. Thank you for considering MicroGen Health for your health care diagnostics.