CDH1 Gene Mutation Detection (Blood)
This test checks for changes in the CDH1 gene, which may be linked to certain inherited blood disorders or cancer risks. It involves analyzing a sample of your blood.
["This test helps identify genetic variations that could affect your health."]
Key facts at a glance
- LOINC
- 21652-3
- Short code
- CDH1
- Synonyms
- CDH1 gene Mut Anl Bld/T
- Category
- chemistry
- Sample
- whole-blood
- Container
- EDTA (lavender-top) tube for whole blood; sterile container for tissue specimens
- Units
- N/A
- Fasting
- false
- Population
- adult
- Sex
- all
- Age range
- ≥ 0 years
- Method
- molgen
- CPT
- 81211
- SNOMED
- 398226006
- Specimen volume
- 3-5 mL whole blood in EDTA tube; or fresh/frozen tissue in sterile container
- Stability
- Whole blood: stable at room temperature for 24 hours, refrigerated (2-8°C) for 7 days, frozen at -20°C for long-term storage. Tissue: formalin-fixed paraffin-embedded (FFPE) tissue stable indefinitely; fresh tissue should be processed within 24 hours
- 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 family history of conditions like hereditary diffuse gastric cancer (HDGC) or other inherited syndromes linked to CDH1 mutations. It could also be part of a genetic screening or risk assessment.
What to Expect Before the Test
No special preparation is usually needed, but you may be asked to fast for 8–12 hours before drawing blood. Bring any relevant medical records or family history details to your appointment.
How the Test Works
A small amount of blood is drawn from a vein in your arm. The sample is then analyzed in a lab to detect any mutations in the CDH1 gene using advanced genetic testing methods.
What the Results Mean
Results will indicate whether you have a CDH1 mutation. A positive result means the gene has been altered, which may influence future medical decisions, including monitoring or preventive measures.
Reference range
No mutations detected (negative for known pathogenic CDH1 variants). Results interpreted as presence or absence of clinically significant mutations identified in the CDH1 gene.N/A
No special patient preparation required. Genetic counseling is recommended before and after testing. Informed consent may be required per institutional policy. Patients should provide detailed family history of gastric, breast, and other cancers.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
Mutations in the CDH1 gene are associated with an increased risk of certain cancers, including stomach cancer and colorectal cancer. They may also affect blood clotting or other blood-related conditions. Genetic counseling can help explain risks and next steps based on your results.
Short name
CDH1 Mutation Test
Frequently asked questions
What Does a Positive Test Result Mean?
Will This Test Show All Possible Genetic Mutations?
How Often Should I Get This Test?
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