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Genetic analysis for CDH1 gene mutation (full sequence)

Published: August 9, 2026Updated: August 16, 2026

This test checks for changes (mutations) in the CDH1 gene, which is linked to hereditary diffuse gastric cancer syndrome. Early detection may help guide prevention or monitoring strategies.

Quick summary

["This test helps assess risk for a rare but serious inherited condition."]

Medically reviewed by WellAlly Editorial TeamLast reviewed August 16, 2026Editorial policy

Key facts at a glance

LOINC
94240-9
Short code
CDH1
Synonyms
CDH1 gene Del+Dup + Full Mut Anl Bld/T
Category
chemistry
Sample
whole-blood
Container
EDTA (lavender-top) whole blood tube for peripheral blood; sterile container with appropriate transport medium for tissue specimens
Units
N/A
Fasting
false
Population
adult
Sex
all
Age range
0–99 years
Method
molgen
CPT
81432; 81433 (full gene sequence analysis); 81479 (deletion/duplication analysis, unlisted molecular pathology)
SNOMED
446080008
Specimen volume
3-5 mL whole blood or 5-10 mg fresh/frozen tissue
Stability
Whole blood: Ambient 24-48 hours, refrigerated (2-8°C) up to 7 days; do not freeze whole blood. Tissue: Frozen (-20°C or lower) for long-term storage. Extracted DNA: stable at 2-8°C for 1 month, -20°C for long-term.
Hemolysis max
0
Lipemia max
0
Icterus max
0
TAT
336–720 hours
Order
routine

What This Test Measures

The CDH1 gene provides instructions for making a protein called E-cadherin, which helps cells stick together. Mutations in this gene can disrupt normal cell function and increase cancer risk. This test examines the entire gene sequence to identify any inherited changes.

Why It Might Be Ordered

Your healthcare provider may recommend this test if you have a family history of stomach cancer, colorectal cancer, or other related cancers, or if you meet specific genetic risk criteria.

Sample Collection and Process

A blood sample is typically used to collect DNA for genetic testing. The lab processes the sample to analyze the CDH1 gene for any mutations that may be present.

What to Expect After the Test

Results will be reviewed by a genetic counselor or specialist. You’ll receive detailed information about whether mutations were found and their potential implications for your health and family.

Reference range

No pathogenic CDH1 sequence variants, deletions, or duplications detected. Interpretation reported as Positive (pathogenic variant identified), Negative (no pathogenic variant identified), or Variant of Uncertain Significance (VUS).N/A

Specimen: whole-blood

No special preparation or fasting required. Patients should provide informed consent for genetic testing. Pre-test genetic counseling is recommended. A documented clinical and family history of gastric and/or lobular breast cancer supports clinical interpretation.

Clinical interpretation

How abnormal results are interpreted and what conditions they suggest.

Mutations in the CDH1 gene are associated with an increased risk of developing stomach (gastric) cancer and possibly colorectal cancer. Early detection and monitoring can help manage risk through lifestyle changes, surveillance, or preventive measures like endoscopic screenings.

Short name

CDH1 Gene Mutation Test

Frequently asked questions

What does a positive result mean?
A positive result means you have inherited a mutation in the CDH1 gene, which may increase your risk of developing certain cancers. A genetic counselor will explain how this may affect your health and options for monitoring or prevention.
Will this test affect my insurance or ability to get treatment?
Results from genetic testing are confidential and protected under privacy laws. Your insurance coverage depends on your policy and provider. Always discuss financial concerns with your healthcare team.
Can I get this test if I don’t have a family history of cancer?
While this test is often recommended for those with a family history, some healthcare providers may offer it to individuals at higher risk based on other factors. Discuss your personal and family health history with your provider to determine if this is appropriate for you.
  1. 1
    MedlinePlus — Laboratory TestsSource
  2. 2
    Lab Tests OnlineSource
  3. 3
    Mayo Clinic — Tests & ProceduresSource

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.

Medical Disclaimer

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