CDH1 Gene Mutation Test (Blood)
This test checks for genetic changes in the CDH1 gene, which may be linked to certain inherited cancers like diffuse gastric cancer or hereditary diffuse gastric cancer syndrome.
["This test helps assess risk for specific cancer types based on inherited genetic variations."]
Key facts at a glance
- LOINC
- 21653-1
- Short code
- CDH1
- Synonyms
- CDH1 gene Mut Tested Bld/T
- Category
- chemistry
- Sample
- whole-blood
- Container
- EDTA tube (lavender-top) for whole blood; sterile container for tissue specimens
- Units
- N/A
- Fasting
- false
- Population
- adult
- Sex
- all
- Age range
- 18–65 years
- Method
- molgen
- CPT
- 81205
- SNOMED
- 53034-1
- Specimen volume
- 3-5 mL whole blood; 5-10 mg fresh tissue or paraffin-embedded tissue block
- Stability
- Whole blood: 7 days at 2-8°C; Tissue: formalin-fixed paraffin-embedded (FFPE) tissue stable indefinitely at room temperature; Fresh tissue stable 24 hours at 2-8°C
- Hemolysis max
- 0
- Lipemia max
- 0
- Icterus max
- 0
- TAT
- 168–720 hours
- Order
- routine
Why This Test Is Done
Your healthcare provider may recommend this test if you have a family history of certain cancers, symptoms like stomach pain or unexplained weight loss, or if you’re at higher risk due to genetic testing results. It’s also used in screening for hereditary cancer syndromes.
What to Expect Before the Test
You’ll provide a blood sample, typically drawn from a vein in your arm. No special preparation is needed, but inform your provider about any medications or health conditions that could affect results.
What the Test Results Mean
Results can be normal (no mutations detected) or positive (mutations found). A positive result may increase your cancer risk and guide further testing or monitoring, but it doesn’t confirm cancer immediately.
Common Causes for Testing
Testing is often triggered by family history, genetic counseling, or if you’ve already been diagnosed with certain cancers (e.g., stomach, colorectal). It’s part of a broader evaluation for hereditary cancer predispositions.
Reference range
Negative for pathogenic CDH1 gene mutations. No clinically significant variants detected. Interpretation provided based on current ACMG/AMP guidelines and ClinVar database review.N/A
No special patient preparation required. Informed consent for genetic testing is recommended prior to sample collection. Genetic counseling is advised before and after testing.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
◆Associated findings1
Short name
CDH1 Mutation Screening
Frequently asked questions
This test identifies mutations in the CDH1 gene, which can increase susceptibility to cancers like diffuse gastric cancer. Early detection through genetic testing helps tailor surveillance plans, such as regular screenings or lifestyle adjustments to reduce risk.
What does a positive result mean?
How often will I need follow-up testing?
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