Pulmonary Fibrosis and Surfactant Dysfunction Disorders Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
10287 ABCA3 81479,81479 Order Options and Pricing
CSF2RB 81479,81479
ELMOD2 81479,81479
NKX2-1 81479,81479
SFTPA2 81479,81479
SFTPB 81479,81479
SFTPC 81479,81479
SFTPD 81479,81479
TERC 81479,81479
TERT 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
10287Genes x (10)81479 81479 $890 Order Options and Pricing

Pricing Comments

We are happy to accommodate requests for testing single genes in this panel or a subset of these genes. The price will remain the list price. If desired, free reflex testing to remaining genes on panel is available. Alternatively, a single gene or subset of genes can also be ordered via our PGxome Custom Panel tool.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

For Reflex to PGxome pricing click here.

Turnaround Time

18 days on average for standard orders or 14 days on average for STAT orders.

Once a specimen has started the testing process in our lab, the most accurate prediction of TAT will be displayed in the myPrevent portal as an Estimated Report Date (ERD) range. We calculate the ERD for each specimen as testing progresses; therefore the ERD range may differ from our published average TAT. View more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.

EMAIL CONTACTS

Genetic Counselors

Geneticist

Clinical Features and Genetics

Clinical Features

Pulmonary fibrosis (PF) is a chronic progressive lung disease caused by lung scarring. When the scar forms, the lung tissue becomes thicker and losses its ability to transfer oxygen into the bloodstream. The severity and natural course of pulmonary fibrosis varies from person to person. Symptoms of pulmonary fibrosis include shortness of breath, dry cough, weight loss and fatigue. The etiology of pulmonary fibrosis is varied and most cases of pulmonary fibrosis have no known cause called idiopathic pulmonary fibrosis (IPF). It is estimated that the prevalence of IPF is 50 per 100,000 (Raghu et al. 2006). Pulmonary fibrosis also occurs in families, suggesting genetic factors predispose some individuals to develop pulmonary fibrosis (Wolters et 2014).

Pulmonary surfactant generated by type II alveolar epithelial cells is a mixture of phospholipids and proteins. Surfactant dysfunction disorders can be caused by pathogenic variants in genes critical for the production and function of pulmonary surfactant. The clinical presentations of surfactant dysfunction range from neonatal respiratory failure to interstitial lung disease. These disorders can be familial or sporadic cases (Gower et al. 2011).

Genetics

Pulmonary fibrosis and surfactant dysfunction disorders are a group of genetically heterogeneous disorders caused by various interactions between genetic components and environmental exposures. Familial inheritance can be autosomal dominant (AD), autosomal recessive (AR), and sex-chromosome linked. The ELMOD2, NKX2-1, SFTPA1, SFTPA2, SFTPC, and TERC genes are associated with autosomal dominant pulmonary disorders. The ABCA3, CSF2RB, SFTPB and SFTPD genes are associated with autosomal recessive disorders. The TERT gene is associated both autosomal dominant and recessive disorders. See individual gene test descriptions for information on molecular biology of gene products.

Clinical Sensitivity - Sequencing with CNV PGxome

This test should detect causative variants in ~20% of familial pulmonary fibrosis patients (Diaz de Leon et al. 2011; Garcia et al. 2011; van Moorsel et al. 2010).

There are only a few isolated cases reported for large deletions/duplications involving ABCA3, NKX2-1, SFTPB, SFTPC and TERCT. The clinical sensitivity is therefore predicted to be low.

Testing Strategy

This test is performed using Next-Gen sequencing with additional Sanger sequencing as necessary.

This panel provides 100% coverage of all coding exons of the genes plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. We define coverage as ≥20X NGS reads or Sanger sequencing.

Since this test is performed using exome capture probes, a reflex to any of our exome based tests is available (PGxome, PGxome Custom Panels).

Indications for Test

Patients with a strong clinical suspicion for inherited pulmonary fibrosis or surfactant dysfunction.

Genes

Official Gene Symbol OMIM ID
ABCA3 601615
CSF2RB 138981
ELMOD2 610196
NKX2-1 600635
SFTPA2 178642
SFTPB 178640
SFTPC 178620
SFTPD 178635
TERC 602322
TERT 187270
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Related Test

Name
PGxome®

Citations

  • Diaz de Leon A. et al. 2011. Chest. 140: 753-763. PubMed ID: 21349926
  • Garcia C.K. 2011. Proceedings of the American Thoracic Society. 8: 158-62. PubMed ID: 21543794
  • Gower W.A, Nogee L.M. 2011. Paediatric Respiratory Reviews. 12: 223-9. PubMed ID: 22018035
  • Raghu G. et al. 2006. American Journal of Respiratory and Critical Care Medicine. 174: 810-6. PubMed ID: 16809633
  • van Moorsel C.H. et al. 2010. American Journal of Respiratory and Critical Care Medicine. 182: 1419-25. PubMed ID: 20656946
  • Wolters P.J. et al. 2014. Annual Review of Pathology. 9: 157-79 PubMed ID: 24050627

Ordering/Specimens

Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page


Specimen Types

Specimen Requirements and Shipping Details

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ORDER OPTIONS

View Ordering Instructions

1) Select Test Type


2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

No Additional Test Options are available for this test.

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