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Test ID: CDHZ Hereditary Diffuse Gastric Cancer Syndrome, CDH1, Full Gene Analysis, Varies


Ordering Guidance


For a comprehensive hereditary cancer panel that includes the CDH1 gene, consider ordering 1 of the following tests:

-CRCGP / Hereditary Gastrointestinal Cancer Panel, Varies

-BRGYP / Hereditary Breast/Gynecologic Cancer Panel, Varies

 

Testing for CDH1 gene as part of a customized panel is available. For more information see CGPH / Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies.

 

Targeted testing for familial variants (also called site-specific or known mutations testing) is available for this gene. For more information see FMTT / Familial Variant, Targeted Testing, Varies. To obtain more information about this testing option, call 800-533-1710.



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

Container/Tube:

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 whole blood specimen in original tube. Do not aliquot.

Specimen Stability Information: Ambient (preferred) 4 days/Refrigerated


Forms

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:

-Informed Consent for Genetic Testing  (T576)

-Informed Consent for Genetic Testing (Spanish) (T826)

2. Molecular Genetics: Inherited Cancer Syndromes Patient Information Sheet (T519)

3. If not ordering electronically, complete, print, and send a Oncology Test Request (T729) with the specimen.

Useful For

Evaluating patients with a personal or family history suggestive of hereditary diffuse gastric cancer (HDGC) syndrome

 

Establishing a diagnosis of HDGC syndrome allowing for targeted cancer surveillance based on associated risks

 

Identifying genetic variants associated with increased risk for HDGC syndrome allowing for predictive testing of at-risk family members

Genetics Test Information

This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in the CDH1 gene associated with hereditary diffuse gastric cancer (HDGC) syndrome. See Method Description for additional details.

 

Identification of a disease-causing variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for HDGC syndrome.

Method Name

Sequence Capture and Targeted Next-Generation Sequencing followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing

Reporting Name

CDH1 Full Gene Analysis

Specimen Type

Varies

Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies

Clinical Information

Germline variants in the CDH1 gene are associated with hereditary diffuse gastric cancer (HDGC) syndrome, a rare autosomal dominant hereditary cancer syndrome representing 30% to 50% of all diffuse gastric cancer cases. HDGC syndrome is characterized by increased risk to develop diffuse (signet ring cell) gastric cancer and lobular breast cancer, with overall penetrance of this condition approaching 80%.(1-5) Colorectal cancer has been reported in individuals with germline CDH1 variants, however, the specific lifetime risk for colorectal cancer is unknown.(1,5)

 

The National Comprehensive Cancer Network and the International Gastric Cancer Linkage Consortium provide recommendations regarding the medical management of individuals with hereditary diffuse gastric cancer syndrome.(1,4-5)

Reference Values

An interpretive report will be provided.

Interpretation

All detected variants are evaluated according to American College of Medical Genetics and Genomics recommendations.(6) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.

Clinical Reference

1. Kaurah P, Huntsman DG: Hereditary diffuse gastric cancer. In: Adams MP, Everman DB, Mirzaa GM, et al, eds. GeneReviews (Internet). University of Washington, Seattle; 2002. Updated March 22, 2018. Accessed November 8, 2022. Available at www.ncbi.nlm.nih.gov/books/NBK1139/

2. Lindor NM, McMaster ML, Lindor CJ, Greene MH: Concise handbook of familial cancer susceptibility syndromes-second edition. J Natl Cancer Inst Monogr. 2008;(38):1-93. doi: 10.1093/jncimonographs/Ign001

3. Siegel RL, Miller KD, Jemal A: Cancer statistics, 2020. CA Cancer J Clin. 2020 Jan;70(1):7-30

4. Blair VR, McLeod M, Carneiro F, et al: Hereditary diffuse gastric cancer: updated clinical practice guidelines. Lancet Oncol. 2020 Aug;21(8):e386-e397

5. Ajani JA, D'Amico TA, Almhanna K, et al: Gastric Cancer, Version 3.2016. NCCN clinical practice guidelines in Oncology. J Natl Compr Canc Netw. 2016 Oct;14(10):1286-1312

6. 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

Day(s) Performed

Varies

Report Available

21 to 28 days

Test Classification

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

CPT Code Information

81406

LOINC Code Information

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

 

Result ID Test Result Name Result LOINC Value
614671 Test Description 62364-5
614672 Specimen 31208-2
614673 Source 31208-2
614674 Result Summary 50397-9
614675 Result 82939-0
614676 Interpretation 69047-9
614677 Resources 99622-3
614678 Additional Information 48767-8
614679 Method 85069-3
614680 Genes Analyzed 48018-6
614681 Disclaimer 62364-5
614682 Released By 18771-6
Mayo Clinic Laboratories | Genetics and Genomics Additional Information:

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