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HelpTest Code 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
Special Instructions
Method Name
Sequence Capture and Targeted Next-Generation Sequencing followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing
Reporting Name
CDH1 Full Gene AnalysisSpecimen Type
VariesSpecimen Minimum Volume
1 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Varies | ||
Reject Due To
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.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.
Day(s) Performed
Varies
Report Available
21 to 28 daysPerforming Laboratory
Mayo Clinic Laboratories in Rochester
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