CDH1 Gene Mutation Analysis (Blood)
This test checks for changes (mutations) in the CDH1 gene, which may be linked to certain types of hereditary cancer risk.
["Understanding your CDH1 gene status can help guide cancer prevention and monitoring strategies."]
Key facts at a glance
- LOINC
- 104294-4
- Short code
- CDH1
- Synonyms
- CDH1 gene rearrangements Bld/T-Imp
- Category
- chemistry
- Sample
- whole-blood
- Container
- EDTA (purple-top) tube for whole blood; sterile container with transport medium for tissue specimens
- Units
- N/A
- Fasting
- false
- Population
- adult
- Sex
- all
- Age range
- 18–65 years
- Method
- molgen
- CPT
- 81176
- SNOMED
- 444025001
- Specimen volume
- 3-5 mL whole blood or adequate tissue sample (minimum 5 mg)
- Stability
- Whole blood stable at room temperature for 24 hours; refrigerated (2-8°C) for 7 days. Tissue specimens should be preserved in appropriate fixative or transported fresh on ice.
- Hemolysis max
- 0
- Lipemia max
- 0
- Icterus max
- 0
- TAT
- 168–720 hours
- Order
- routine
Why This Test Might Be Ordered
Your healthcare provider may recommend this test if you have a strong family history of diffuse gastric cancer, diffuse colorectal cancer, or other related cancers. It may also be considered if you have symptoms or a personal history of these conditions, especially when other genetic tests have been negative.
What to Expect Before the Test
No special preparation is needed. You’ll provide a simple blood sample, usually drawn from your arm. The test involves collecting whole blood, which is then analyzed for genetic mutations in the CDH1 gene.
What the Test Results Mean
If mutations are found, they may increase your risk of developing certain cancers. If no mutations are detected, it does not rule out cancer risk entirely, but it helps narrow down further testing or monitoring options.
Common Types of Genetic Mutations Detected
This test typically looks for specific types of genetic alterations (such as deletions, insertions, or point mutations) in the CDH1 gene that may affect protein function and increase cancer risk.
Reference range
No CDH1 gene rearrangement detected. Negative for pathogenic structural variants involving the CDH1 gene locus on chromosome 16q22.1.N/A
No special patient preparation required. Patients should provide informed consent for genetic testing. Genetic counseling is recommended before and after testing. Family history of gastric or breast cancer should be documented.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
Mutations in the CDH1 gene are associated with Lynch syndrome-related cancers (such as diffuse gastric and colorectal cancers) and may also contribute to other hereditary cancer syndromes. Identifying these mutations can help tailor surveillance, risk-reducing strategies, or family counseling to manage your health proactively.
Short name
CDH1 Gene Mutation Test
Frequently asked questions
What does a positive result mean for my cancer risk?
Will this test show all possible genetic mutations?
Can I get this test if I don’t have a family history of cancer?
Sources
- 1
- 2Lab Tests OnlineSource
- 3
Click any link to access the full source. PubMed Central (PMC) links provide free full-text access.
This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 16, 2026. · Read our editorial policy