“A COMPREHENSIVE TEST PANEL TO EVALUATE LUNG FUNCTION”
Genetic pulmonary diseases are respiratory conditions commonly passed down in the genes of generational relations. Some diseases are frequently found in the population and can be managed through drug and lifestyle therapies. An excellent example of this would be asthma. Other rarer diseases that may be present through a pulmonary genomics panel could include chronic respiratory disorders that affect airways, lung parenchyma, and vasculature.
The faster testing is conducted for clients and families with symptoms identified by medical professionals, the better a treatment plan can be devised to curb unwanted symptoms. These diseases manifest as a result of abnormal lung development or due to impaired lung function. Unfortunately, the differential diagnosis based on clinical symptoms and lung function tests is often difficult due to variable presentation and overlapping phenotypes. That is why testing can lead to a more precise diagnosis.
The full pulmonary panel at MicroGen Health offers tests for the specific diagnosis of 69 heritable respiratory disorders covering several hereditary syndromes, cystic fibrosis, bronchiectasis, primary ciliary dyskinesia, tuberous sclerosis, pulmonary fibrosis, and pulmonary hypertension. As discoveries in pulmonary genetics research continue to grow, we look forward to expanding our panel and testing abilities to help clients receive the proper diagnosis conclusions their physicians use to develop proactive medical treatment plans.
Early diagnosis is vital for preserving lung function as long as possible. We strongly encourage those with positive results to have their relative tested, even if they do not show any signs of potential disease. When one genetic mutation is present in a family member, often other close relatives may have the same mutation.
Pulmonary genomics panel covers 67 genes
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:
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 generation sequencing. 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, 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.
|ABCA3||Surfactant metabolism dysfunction, pulmonary, 3|
|CCDC39||Ciliary dyskinesia, primary, 14|
|CCDC40||Ciliary dyskinesia, primary, 15|
|CHAT||Congenital Myasthenic syndrome with episodic apnea|
|CHRNA1||Myasthenic syndrome, congenital, 1B|
|CHRNB1||Myasthenic syndrome, congenital, 2C|
|CHRND||Myasthenic syndrome, congenital, 3C|
|CHRNE||Myasthenic syndrome, congenital, 4B|
|COLQ||Myasthenic syndrome, congenital, 5|
|CSF2RA||Surfactant metabolism dysfunction, pulmonary, 4|
|CSF2RB||Surfactant metabolism dysfunction, pulmonary, 5|
|DKC1||Dysketatosis congenita, X-linked|
|DNAAF1||Ciliary dyskinesia, primary, 13|
|DNAAF2||Ciliary dyskinesia, primary, 19|
|DNAH1||Ciliary dyskinesia, primary, 37|
|DNAH11||Ciliary dyskinesia, primary, 7|
|DNAH5||Ciliary dyskinesia, primary, 3|
|DNAI2||Ciliary dyskinesia, primary, 9|
|DNAL1||Ciliary dyskinesia, primary, 16|
|EDN3||Congenital central hypoventilation|
|EFEMP2||Autosomal recessive cutis laxa type 1B|
|ELN||Cutis laxa, autosomal dominant 1|
|FBLN5||Cutis laxa, autosomal dominant 2|
|FLCN||Pneumothorax, primary spontaneous|
|FOXF1||Alveolar capillary dysplasia with pulmonary venous misalignment|
|GAS8||Ciliary dyskinesia, primary,33|
|HPS1||Hermansky-Pudlak syndrome 1|
|HPS4||Hermansky-Pudlak syndrome 4|
|ITGA3||Interstitial Lung disease|
|LTBP4||Cutis laxa with severe pulmonary, gastrointestinal and urinary abnormalities|
|NKX2-1||Choreoathetosis, hypothyroidism, and neonatal respiratory distress|
|NME8||Ciliary dyskinesia, primary 6|
|PARN||Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4|
|PHOX2B||Congenital central hypoventilation|
|PIH1D3#||Primary ciliary dyskinesia, X-linked|
|RAPSN||Myasthenic syndrome, congenital, 11|
|RET||Multiple Endocrine Neoplasia, Type Iia|
|RSPH3||Ciliary dyskinesia, primary, 32|
|RSPH4A||Ciliary dyskinesia, primary, 11|
|RSPH9||Ciliary dyskinesia, primary, 12|
|RTEL1||Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3|
|SCN4A||Paramyotonia congenita of Von Eulenburg|
|SCNN1A||Bronchiectasis with or without elevated sweat chloride 2|
|SCNN1B||Bronchiectasis with or without elevated sweat chloride 1|
|SFTPA1||Idiopathic pulmonary fibrosis|
|SFTPA2||Idiopathic pulmonary fibrosis|
|SFTPB||Surfactant metabolism dysfunction, pulmonary,1|
|SFTPC||Surfactant metabolsim dysfunction, pulmonary, 2|
|SLC34A2||Pulmonary alveolar microlithiasis|
|SLC7A7||Lysinuric protein intolerance|
|SMPD1||Niemann-Pick disease, Type A/B|
|STAT3||Hyper-IgE recurrent infection syndrome 1, autosomal dominant|
|TERC||Dyskeratosis congenita, autosomal dominant 1|
|TERT||Dyskeratosis congenita, autosomal dominant 1/2/4|
|TINF2||Dyskeratosis congenita, autosomal dominant 3|
|TSC1||Tuberous sclerosis 1|
|TSC2||Tuberous sclerosis 2|
Beckmann, B.M., Pfeufer, A., & Kääb, S. Inherited cardiac arrhythmias: diagnosis, treatment, and prevention. Dtsch Arztebl Int. 2011 Sep;108(37):623-33 (2011) Kimura, A. Molecular genetics and pathogenesis of cardiomyopathy. J Hum Genet. Jan;61(1):41-50 (2016)