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Test ID: CDH1Z CDH1 Gene, Full Gene Analysis

Useful For

Confirmation of suspected clinical diagnosis of hereditary diffuse gastric cancer

 

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

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, CGH array will always be performed at an additional charge.

Method Name

Polymerase chain reaction (PCR) amplification followed by DNA sequencing and gene dosage analysis by array comparative genomic hybridization (aCGH).

Reporting Name

CDH1 Gene, Full Gene Analysis

Specimen Type

Varies


Shipping Instructions


Specimen preferred to arrive within 96 hours of draw.



Specimen Required


Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call Mayo Medical Laboratories 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 specimen in original tube.


Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time
Varies Ambient (preferred)
  Frozen 
  Refrigerated 

Clinical Information

Hereditary diffuse gastric cancer (HDGC) is a rare autosomal dominant hereditary cancer syndrome associated with germline mutations in the CDH1gene that 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 mutations 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 mutation 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.

Interpretation

All detected alterations are evaluated according to American College of Medical Genetics 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, et al: 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 GeneReviews  2011. Available at www.ncbi.nlm.nih.gov/books/NBK1139/

Day(s) and Time(s) Performed

Performed weekly, Varies

Analytic Time

14 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 U.S. Food and Drug Administration.

CPT Code Information

81406-CDH1 (cadherin 1, type 1, E-cadherin [epithelial]) (eg, hereditary diffuse gastric cancer), full gene sequence

 

Hereditary Colon Cancer CGH Array

81228-Cytogenomic constitutional (genome-wide) microarray analysis; interrogation of genomic regions for copy number variants (eg, Bacterial Artificial Chromosome [BAC] or oligo-based comparative genomic hybridization [CGH] microarray analysis)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
CDH1Z CDH1 Gene, Full Gene Analysis In Process

 

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

Forms

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

2. New York Clients-Informed consent is required. Please document on the request form or electronic order that a copy is on file. An Informed Consent for Genetic Testing (T576) is available in Special Instructions.

Mayo Medical Laboratories | Genetics and Pharmacogenomics Catalog Additional Information:

mml-inherited-molecular