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Hereditary Diffuse Gastric Cancer via the CDH1 Gene

Summary and Pricing

Test Method

Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
CDH1 81406 81406,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
7393CDH181406 81406,81479 $990 Order Options and Pricing

Pricing Comments

Testing run on PG-select capture probes includes CNV analysis for the gene(s) on the panel but does not permit the optional add on of exome-wide CNV analysis. Any of the NGS platforms allow reflex to other clinically relevant genes, up to whole exome or whole genome sequencing depending upon the base platform selected for the initial test.

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

This test is also offered via a custom panel (click here) on our exome or genome backbone which permits the optional add on of exome-wide CNV or genome-wide SV analysis.

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

Hereditary diffuse gastric cancer (HDGC) is a highly penetrant diffuse-type of gastric cancer. Patients with HDGC typically present at 40 years of age and have a cumulative cancer risk of 67% by 80 years of age for men and 83% for women (Pharoah et al. Gastroenterology 121:1348–53, 2001). HDGC is caused by CDH1 variants, which are found in all ethnic groups but are rare in countries with high rates of sporadic gastric cancer, including Japan and Korea (Guilford et al. Gastric Cancer 13: 1–10, 2010). Approximately 10% of gastric cancers show familial clustering and about 1–3% of cases are known to be hereditary (e.g. CDH1 variants). Variants in CDH1 can also cause lobular breast cancer in women (Carneiro et al. J Clin Pathol 61:25–30, 2008).


Hereditary diffuse gastric cancer is an autosomal dominant disease that is caused by variants in the CDH1 gene. CDH1 encodes epithelial cadherin (e-cadherin), which is a transmembrane protein that is responsible for cell-to-cell adhesion and cellular invasion suppression. It also plays important roles in signal transduction, differentiation, gene expression, cell motility, and inflammation (Kaurah and Huntsman. GeneReviews. 2011). The activity of E-cadherin in coordination with the actin cytoskeleton through catenins (e.g. α-, β-, and γ-) is responsible for cellular adhesion. Many human cancers show low levels of E-cadherin compared to normal tissue, which causes defects in cellular adhesion and ultimately leads to metastasis. HDGC is inherited from an affected family member, and de novo variants have not been reported. The majority of germline variants are truncating variants in E-cadherin, and the second hit of the normal allele in normal gastric tissue is usually due to CDH1 promoter hypermethylation and secondly due to CDH1 deletions (Schrader and Huntsman. Cancer Treatment and Research 155: 33-62, 2010).

Clinical Sensitivity - Sequencing with CNV PG-Select

The clinical sensitivity of CDH1 germline variants is 30% for HDGC families (Carneiro et al. J Clin Pathol 61:25–30, 2008). The majority of variants reported to date are single nucleotide substitutions, and small insertions and deletions. Gross deletions and duplications can be found in up to 4% of HDGC cases (Kaurah and Huntsman. GeneReviews. 2011).

Testing Strategy

This test provides full coverage of all coding exons of the CDH1 gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.

Indications for Test

The International Gastric Cancer Linkage Consortium (IGCLC) recently made recommendations for testing for HDGC (Fitzgerald, et al. J Med Genet 47(7): 436–444, 2010).

Two gastric cancer cases in a family with one individual under age 50 years with confirmed diffuse gastric cancer (DGC); three confirmed DGC cases in first- or second-degree relatives independent of age; simplex case (i.e., a single occurrence in a family) of DGC occurring before age 40 years; personal or family history of DGC and lobular breast cancer with one family member diagnosed before age 50 years.

This test is specifically designed for heritable germline variants and is not appropriate for the detection of somatic variants in tumor tissue.


Official Gene Symbol OMIM ID
CDH1 192090
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Hereditary Diffuse Gastric Cancer AD 137215

Related Test

Hereditary Breast and Ovarian Cancer - High Risk and Lynch Syndrome Panel


  • Carneiro F, Oliveira C, Suriano G, Seruca R. 2007. Molecular pathology of familial gastric cancer, with an emphasis on hereditary diffuse gastric cancer. Journal of Clinical Pathology 61: 25–30. PubMed ID: 17513507
  • Fitzgerald, et al. (2010). PubMed ID: 20591882
  • Guilford P, Humar B, Blair V. 2010. Hereditary diffuse gastric cancer: translation of CDH1 germline mutations into clinical practice. Gastric Cancer 13: 1–10. PubMed ID: 20373070
  • Kaurah and Huntsman. GeneReviews. 2011
  • Kaurah P, Huntsman DG. 2011. Hereditary Diffuse Gastric Cancer. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong C-T, and Stephens K, editors. GeneReviews™, Seattle (WA): University of Washington, Seattle. PubMed ID: 20301318
  • Pharoah PDP, Guilford P, Caldas C. 2001. Incidence of gastric cancer and breast cancer in CDH1 (E-cadherin) mutation carriers from hereditary diffuse gastric cancer families. Gastroenterology 121: 1348–1353. PubMed ID: 11729114
  • Schrader K, Huntsman D. 2010. Hereditary Diffuse Gastric Cancer. In: Pasche B, editors. Cancer Genetics, Boston, MA: Springer US, p 33–63. PubMed ID: 20517687


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

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View Ordering Instructions

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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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