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Lung Cancer Susceptibility via the EGFR Gene

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
EGFR 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
11283EGFR81479 81479,81479 $990 Order Options and Pricing

Pricing Comments

Our favored testing approach is exome based NextGen sequencing with CNV analysis. This will allow cost effective reflexing to PGxome or other exome based tests. However, if full gene Sanger sequencing is desired for STAT turnaround time, insurance, or other reasons, please see link below for Test Code, pricing, and turnaround time information. If the Sanger option is selected, CNV detection may be ordered through Test #600.

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

Click here for costs to reflex to whole PGxome (if original test is on PGxome Sequencing platform).

Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing platform).

The Sanger Sequencing method for this test is NY State approved.

For Sanger Sequencing click here.

Turnaround Time

3 weeks on average for standard orders or 2 weeks 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.


Genetic Counselors


  • Yuan Xue, PhD

Clinical Features and Genetics

Clinical Features

Lung cancer is the leading cause of cancer deaths in the United States (Siegel et al. 2013). There are two major forms of lung cancer, nonsmall cell lung cancer (NSCLC) and small cell lung cancer, which represent 85% and 15% of lung cancers, respectively. The major histological subtypes of NSCLC include squamous cell carcinoma, adenocarcinoma, large cell lung cancer, and bronchioloalveolar carcinoma (Ramalingam et al. 2011). While cigarette smoking accounts for the majority of lung cancers (Bunn. 2012), there are likely individuals who have a predisposition to lung cancer compared to the general population (Thomas et al. 2013).


Lung cancer is associated with pathogenic variants in the EGFR gene, which encodes the epidermal growth factor receptor that acts through a tyrosine kinase pathway leading to cellular proliferation. Somatic mutations in the EGFR gene are associated with lung cancer, and because of this, individuals with lung cancer may respond to tyrosine kinase inhibitors (Ramalingam et al. 2011). Germline variants in the EGFR gene have also infrequently been associated with lung cancer predisposition, which appear to occur in an autosomal dominant manner. Cellular studies have shown increased autophosphorylation levels of EGFR by some of these germline variants (Centeno et al. 2011). In addition, a mouse model harboring these variants has been developed that is susceptible to lung adenocarcinomas (Regales et al. 2007). It has been suggested that a pathogenic germline variant in the EFGR gene may act in concert with a somatic EGFR mutation, and possibly lead to the induction of lung cancer and may cause resistance or sensitivity to therapy depending on the combination of variants (Centeno et al. 2011; Ohtsuka et al. 2011; van Noesel et al. 2013; Chung et al. 2010). Due to the lower oncogenic activity of some of these germline EGFR variants, induction of lung cancer may also be caused by combinations with other somatic pathogenic variants in other genes (e.g. KRAS) (Thomas et al. 2013). The relatively few pathogenic variants that have been reported in the EGFR gene are missense variants (Human Gene Mutation Database).

Clinical Sensitivity - Sequencing with CNV PGxome

The clinical sensitivity of this test is unknown due to the few reported cases of lung cancer susceptibility and EGFR mutations.

Thus far, no pathogenic germline deletions or deletions in the EGFR gene have been reported.

Testing Strategy

This test provides full coverage of all coding exons of the EGFR gene 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 full coverage as >20X NGS reads or Sanger sequencing. PGnome panels typically provide slightly increased coverage over the PGxome equivalent. PGnome sequencing panels have the added benefit of additional analysis and reporting of deep intronic regions (where applicable).

Dependent on the sequencing backbone selected for this testing, discounted reflex testing to any other similar backbone-based test is available (i.e., PGxome panel to whole PGxome; PGnome panel to whole PGnome).

Indications for Test

No specific testing guidelines for germline testing for EGFR pathogenic variants exists for lung cancer patients. Individuals who have lung cancer at an early age or who never have been smokers and/or have a family history of lung cancer may be considered. ***This test is specifically designed for heritable germline mutations and is not appropriate for the detection of somatic EGFR mutations in tumor tissue.***


Official Gene Symbol OMIM ID
EGFR 131550
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Lung Cancer AD 211980


  • Bunn Jr PA. 2012. Worldwide Overview of the Current Status of Lung Cancer Diagnosis and Treatment. Archives of pathology & laboratory medicine 136: 1478–1481.
    PubMed ID: 23194039
  • Centeno I, Blay P, Santamaría I, Astudillo A, Pitiot A, Osorio F, González-Arriaga P, Iglesias F, Menéndez P, Tardón A. 2011. Germ-line mutations in epidermal growth factor receptor (EGFR) are rare but may contribute to oncogenesis: A novel germ-line mutation in EGFR detected in a patient with lung adenocarcinoma. BMC cancer 11: 172. PubMed ID: 21575252
  • Chung K-P, Shih J-Y, Yu C-J. 2010. Favorable response to gefitinib treatment of lung adenocarcinoma with coexisting germline and somatic epidermal growth factor receptor mutations. Journal of Clinical Oncology 28: e701–e703. PubMed ID: 20823418
  • Human Gene Mutation Database (Bio-base).
  • Ohtsuka K, Ohnishi H, Kurai D, Matsushima S, Morishita Y, Shinonaga M, Goto H, Watanabe T. 2011. Familial lung adenocarcinoma caused by the EGFR V843I germ-line mutation. Journal of Clinical Oncology 29: e191–e192. PubMed ID: 21172876
  • Ramalingam SS, Owonikoko TK, Khuri FR. 2011. Lung cancer: New biological insights and recent therapeutic advances. CA: A Cancer Journal for Clinicians 61: 91–112. PubMed ID: 21303969
  • Regales L, Balak MN, Gong Y, Politi K, Sawai A, Le C, Koutcher JA, Solit DB, Rosen N, Zakowski MF, Pao W. 2007. Development of New Mouse Lung Tumor Models Expressing EGFR T790M Mutants Associated with Clinical Resistance to Kinase Inhibitors. PLoS ONE 2: e810. PubMed ID: 17726540
  • Siegel R, Naishadham D, Jemal A. 2013. Cancer statistics, 2013. CA: A Cancer Journal for Clinicians 63: 11-30. PubMed ID: 23335087
  • Thomas A, Xi L, Carter CA, Rajan A, Khozin S, Szabo E, Dennis PA, Giaccone G, Raffeld M. 2013. Concurrent Molecular Alterations in Tumors With Germ Line Epidermal Growth Factor Receptor T790M Mutations. Clinical Lung Cancer 14: 452–456. PubMed ID: 23540867
  • van Noesel J, Ven WH van der, Os TAM van, Kunst PWA, Weegenaar J, Reinten RJA, Kancha RK, Duyster J, Noesel CJM van. 2013. Activating germline R776H mutation in the epidermal growth factor receptor associated with lung cancer with squamous differentiation. J. Clin. Oncol. 31: e161–164. PubMed ID: 23358982


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

If ordering a Duo or Trio test, the proband and all comparator samples are required to initiate testing. If we do not receive all required samples for the test ordered within 21 days, we will convert the order to the most effective testing strategy with the samples available. Prior authorization and/or billing in place may be impacted by a change in test code.

Specimen Types

Specimen Requirements and Shipping Details

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

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View Ordering Instructions

1) Select Test Method (Platform)

1) Select Test Type

2) Select Additional Test Options

No Additional Test Options are available for this test.

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