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Pulmonary Fibrosis Syndrome via the SFTPA2 Gene

Summary and Pricing

Test Method

Bi-Directional Sanger Sequencing
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
2307 SFTPA2 81479 81479 $690 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
2307SFTPA281479 81479 $690 Order Options and Pricing

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

Turnaround Time

12 days on average for standard orders or 8 days on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn 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

  • Fang Xu, PhD, FACMG

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 loses 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 individuals to develop pulmonary fibrosis (Wolters et 2014). Linkage analysis studies have identified multiple genes including SFTPA2, which are involved in the inherited form of IPF (Kropski et al. 2013).

Genetics

Pathogenic variants in SFTPA2 cause idiopathic pulmonary fibrosis and inherited in autosomal dominant manner. The SFTPA2 gene located at chromosome 10q22.3 spreads over 8 kb of genomic DNA and encodes surfactant protein A2, an isoform of surfactant protein. The pathogenic variants in SFTPA2 could result in surfactant protein A2 being misfolded and accumulated in Endoplasmic reticulum (ER), which lead to ER stress and dysfunction of the alveolar type II cells (Wang et al. 2009). So far, only missense pathogenic variants have been reported and no large deletions or duplications have been documented for the SFTPA2 gene (Human Gene Mutation Databases).

Clinical Sensitivity - Sanger Sequencing

Pathogenic SFTPA2 variants appear to be a rare cause of pulmonary fibrosis and cause less than 1% of familial pulmonary fibrosis cases (Talbert and Schwartz 2015).

Testing Strategy

SFTPA2 is located on chromosome 10q22.3. Testing involves PCR amplification from genomic DNA and bidirectional Sanger sequencing of the coding exons and ~10 bp of adjacent noncoding sequences. We will also sequence any single exon (Test #100) in family members of patients with a known pathogenic variant or to confirm research results.

Indications for Test

All patients with symptoms suggestive of pulmonary fibrosis are candidates for this test.

Gene

Official Gene Symbol OMIM ID
SFTPA2 178642
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Idiopathic Fibrosing Alveolitis, Chronic Form AD 178500

Citations

  • Human Gene Mutation Database (Bio-base).
  • Kropski J.A. et al. 2013. Disease Models & Mechanisms. 6: 9-17. PubMed ID: 23268535
  • Raghu G. et al. 2006. American Journal of Respiratory and Critical Care Medicine. 174: 810-6. PubMed ID: 16809633
  • Talbert J.L and Schwartz D.A. 2015. Pulmonary Fibrosis, Familial. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong C-T, Smith RJ, and Stephens K, editors. GeneReviews™, Seattle (WA): University of Washington, Seattle. PubMed ID: 20301408
  • Wang Y. et al. 2009. American Journal of Human Genetics. 84: 52-9. PubMed ID: 19100526
  • 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.
  • PGnome sequencing panels can be ordered via the myPrevent portal only at this time.

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 Method (Backbone)


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.

Note: acceptable specimen types are whole blood and DNA from whole blood only.
Total Price: $
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