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Test ID: CDH1Z CDH1 Gene, Full Gene Analysis, Varies

Useful For

Confirmation of suspected clinical diagnosis of hereditary diffuse gastric cancer


Identification of familial CDH1 variant to allow for predictive testing in family members


Predictive testing of an asymptomatic child is not recommended.

Additional Tests

Test ID Reporting Name Available Separately Always Performed
COLAB Hereditary Colon Cancer CGH Array Yes, (order FMTT) Yes

Testing Algorithm

When this test is ordered, array comparative genomic hybridization will always be performed at an additional charge.

Method Name

Polymerase Chain Reaction (PCR) Amplification followed by DNA Sequencing

COLAB: Gene Dosage Analysis by Array Comparative Genomic Hybridization (aCGH)

Reporting Name

CDH1 Gene, Full Gene Analysis

Specimen Type


Shipping Instructions

Specimen preferred to arrive within 96 hours of collection.

Specimen Required

Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.

Specimen Type: Whole blood


Preferred: Lavender top (EDTA) or yellow top (ACD)

Acceptable: Any anticoagulant

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send specimen in original tube.

Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Ambient (preferred)

Clinical Information

Hereditary diffuse gastric cancer (HDGC) is a rare autosomal dominant hereditary cancer syndrome associated with germline variants in the CDH1gene,which encodes the protein E-cadherin. HDGC is predominantly characterized by increased susceptibility to diffuse gastric cancer and lobular breast cancer. HDGC is highly penetrant since the risk for developing gastric cancer is 80% by age 80. Women also have an approximately 40% to 60% risk of breast cancer by age 80. Colorectal cancer has been reported in individuals with germline CDH1 variants, however, the specific lifetime risk for colorectal cancer is unknown.


The International Gastric Cancer Linkage Consortium proposes clinical criteria for the selection of individuals who are at increased risk of having a germline CDH1 variant as follows: 1) two or more cases of diffuse gastric cancer (histopathological confirmation in at least 1 case) in first- or second-degree relatives in which at least 1 individual is diagnosed prior to age 50; 2) three or more documented cases of diffuse gastric cancer in first- or second-degree relatives regardless of age of onset; 3) individuals diagnosed with diffuse gastric cancer before the age of 40 regardless of family history; 4) personal or family history of diffuse gastric cancer and lobular breast cancer in first and second relatives with at least 1 diagnosis occurring before age 50.

Reference Values

An interpretive report will be provided.


All detected alterations are evaluated according to American College of Medical Genetics and Genomics (ACMG) recommendations.(1) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.

Clinical Reference

1. Richards S, Aziz N, Bale S, et al: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015 May;17(5):405-424

2. Lindor NM, McMaster ML, Lindor CJ, Greene MH; National Cancer Institute, Division of Cancer Prevention, Community Oncology and Prevention Trials Research Group. Concise handbook of familial cancer susceptibility syndromes - second edition. J Natl Cancer Inst Monogr. 2008;(38):1-93

3. Fitzgerald RC, Hardwick R, Huntsman D, et al: Hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future research. J Med Genet. 2010;47:436-444

4. Kaurah P, Huntsman DG: Hereditary diffuse gastric cancer. In: Adams MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews (Internet). University of Washington, Seattle; 2002. Updated March 22, 2018. Accessed August 12, 2020 Available at

Day(s) Performed


Report Available

14 to 20 days

Test Classification

This test was developed, and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information


Hereditary Colon Cancer CGH Array, additional test


LOINC Code Information

Test ID Test Order Name Order LOINC Value
CDH1Z CDH1 Gene, Full Gene Analysis 94240-9


Result ID Test Result Name Result LOINC Value
52487 Result Summary 50397-9
52488 Result 82939-0
52489 Interpretation 69047-9
52490 Additional Information 48767-8
52491 Specimen 31208-2
52492 Source 31208-2
52494 Array Billed? No LOINC Needed
52495 Released By 18771-6


1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available in Special Instructions:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. Molecular Genetics: Inherited Cancer Syndromes Patient Information (T519) in Special Instructions

Mayo Clinic Laboratories | Genetics and Pharmacogenomics Catalog Additional Information: