Pharmacogenomics

Pulmonary Genomics

“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.

Genes

Pulmonary genomics panel covers 67 genes

Ciliary dyskinesia

15 genes
  • CCDC39
  • CCDC40
  • DNAAF1
  • DNAAF2
  • DNAH1
  • DNAH11
  • DNAH5
  • DNAI2
  • DNAL1
  • GAS8
  • NME8
  • PIH1D3
  • RSPH3
  • RSPH4A
  • RSPH9

Myasthenic syndrome

7 genes
  • CHAT
  • CHRNA1
  • CHRNB1
  • CHRND
  • CHRNE
  • COLQ
  • RAPSN

Surfactant metabolism dysfunction

5 genes
  • ABCA3
  • CSF2RA
  • CSF2RB
  • SFTPB
  • SFTPC

Bronchiestasis

2 genes
  • SCNN1A
  • SCNN1B

Pulmonary Fibrosis

4 genes
  • ELMOD2
  • RTEL1
  • SFTPA1
  • SFTPA2

Cystic Fibrosis

1 gene
  • CFTR

Cutis laxa

4 genes
  • EFEMP2
  • ELN
  • FBLN5
  • LTBP4

Hermansky-Pudlak syndrome

2 genes
  • HPS1
  • HPS4

Dyskeratosis congenital

3 genes
  • TERC
  • TERT
  • TINF2

Tuberous sclerosis

2 genes
  • TSC1
  • TSC2

Hyperekplexia

2 genes
  • GLRA1
  • SLC6A5

Neimann-Pick disease A/B

1 gene
  • SMPD1

Lysinuric protein intolerance

1 gene
  • SLC7A7

When and Why to do Pulmonary Genomics Testing?

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

Steps Involved in Pulmonary Genomics Testing

Sample Collection and Transport

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.

Test Procedure

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).

Test Report

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.

Customer Service

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.

Disorders covered in the panel

Gene Disorder
ABCA3 Surfactant metabolism dysfunction, pulmonary, 3
CCDC39 Ciliary dyskinesia, primary, 14
CCDC40 Ciliary dyskinesia, primary, 15
CFTR Cystic Fibrosis
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
DNAI1 Kartagener syndrome
DNAI2 Ciliary dyskinesia, primary, 9
DNAL1 Ciliary dyskinesia, primary, 16
EDN3 Congenital central hypoventilation
EFEMP2 Autosomal recessive cutis laxa type 1B
ELMOD2 Pulmonary Fibrosis
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
GLRA1 Hyperekplexia 1
HPS1 Hermansky-Pudlak syndrome 1
HPS4 Hermansky-Pudlak syndrome 4
ITGA3 Interstitial Lung disease
LTBP4 Cutis laxa with severe pulmonary, gastrointestinal and urinary abnormalities
MECP2 Rett syndrome
NAF1 Dysketatosis congenita
NF1 Neurofibromatosis-Noonan syndrome
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
SERPINA1 Alpha-1-antitrypsin deficiency
SFTPA1 Idiopathic pulmonary fibrosis
SFTPA2 Idiopathic pulmonary fibrosis
SFTPB Surfactant metabolism dysfunction, pulmonary,1
SFTPC Surfactant metabolsim dysfunction, pulmonary, 2
SLC34A2 Pulmonary alveolar microlithiasis
SLC6A5 Hyperekplexia 3
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
ZEB2 Mowat-Wilson Syndrome
  • Specimen requirements

    Blood or Extracted DNA or Buccal Swab or Saliva

  • Turn around time:

    3-5 Weeks

  • CPT Codes:

    81403, 81405, 81406, 81407, 81479

    NOTE: The CPT codes listed on the website are in accordance with Current Procedural Terminology, a publication of the American Medical Association. CPT codes are provided here for the convenience of our clients. Clients who bill for services should make the final decision on which codes to use.

  • Coverage:

    96.0% of targeted genomic regions at 20X coverage or higher

Resources/References

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)