CDH1 Gene Gastric cancer, hereditary diffuse NGS Genetic Test
Short Name: CDH1 NGS Test
Also known as: CDH1 Gene Mutation Test, Hereditary Diffuse Gastric Cancer Genetic Test, E-cadherin Gene Test
CDH1 Gene Gastric cancer, hereditary diffuse NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are typically delivered within 3 to 4 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 7, 2026
Overview
The purpose of this test is to identify pathogenic variants in the CDH1 gene that are associated with hereditary diffuse gastric cancer (HDGC). Early detection of such mutations enables proactive management, including enhanced surveillance, prophylactic gastrectomy, and family screening, thereby reducing morbidity and mortality.
- Test Code
- 5992
- CPT Code
- 81408
- ICD Code
- Z15.09
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are typically delivered within 3 to 4 weeks after the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation required. However, a genetic counseling session is recommended before the test to discuss implications and obtain informed consent.
Method: Venipuncture or Fingerstick
Laboratory Analysis
Blood sample will be collected by a trained phlebotomist. For FTA card, a simple fingerstick is sufficient.
Report Delivery
No restrictions. You can resume normal activities immediately.
Timeline: Reports are typically delivered within 3 to 4 weeks after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify pathogenic variants in the CDH1 gene that are associated with hereditary diffuse gastric cancer (HDGC). Early detection of such mutations enables proactive management, including enhanced surveillance, prophylactic gastrectomy, and family screening, thereby reducing morbidity and mortality.
How to Prepare
- Ensure the sample is collected in the provided EDTA tube or FTA card.
- Label the sample with patient's full name, date of birth, and collection date.
- If using FTA card, allow the blood spot to dry completely before packaging.
- Transport the sample to the lab at ambient temperature.
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Genetic testing for CDH1 mutations is crucial for families with hereditary diffuse gastric cancer. Early identification allows for risk-reducing strategies and surveillance, potentially saving lives."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Sample received without proper labeling
- Sample exposed to extreme temperatures
Understanding Your Results
Positive (Pathogenic variant detected)
The individual has a pathogenic mutation in CDH1, confirming a diagnosis of HDGC. Lifetime risk of gastric cancer is significantly elevated (up to 80% in males, 70% in females). Prophylactic gastrectomy and regular surveillance are recommended.
Action: Genetic counseling, family testing, and discussion of risk-reducing options.
Negative (No pathogenic variant detected)
No disease-causing mutation was found in the CDH1 gene. However, this does not exclude hereditary gastric cancer due to other genes or undetected variants.
Action: Consider testing other genes if clinical suspicion remains high.
Variant of Uncertain Significance (VUS)
A genetic variant was found, but its impact on protein function is unknown. It may be benign or pathogenic.
Action: Further family segregation studies and functional assays may be needed.
Consult your doctor or genetic counselor if you have a family history of gastric cancer, especially diffuse type, or if you experience symptoms like abdominal pain, unexplained weight loss, or difficulty swallowing.
Limitations
- ⚠This test does not detect all possible genetic causes of gastric cancer; other genes may be involved.
- ⚠Variants of uncertain significance (VUS) may be reported; interpretation may require further family studies.
- ⚠NGS may not detect deep intronic mutations or large structural rearrangements beyond the assay's design.
- ⚠Negative result does not rule out hereditary gastric cancer if clinical suspicion is high.
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of genetic testing results
- ●Potential for genetic discrimination (though limited by laws)
Interfering Factors
- ●Contaminated or degraded DNA sample
- ●Presence of maternal cell contamination in fetal samples
- ●Recent blood transfusion (within 2 weeks) may dilute DNA
- ●Incorrect sample labeling or handling
Compare With Similar Tests
| Test | CDH1 Gene Gastric cancer, hereditary diffuse NGS Genetic Test | Single Gene CDH1 Sequencing | Multi-Gene Cancer Panel | Whole Exome Sequencing |
|---|---|---|---|---|
| Comparison | CDH1 Gene Gastric cancer, hereditary diffuse NGS Genetic Test | Targeted analysis of CDH1 only, lower cost, but may miss large rearrangements. | Includes CDH1 and other gastric cancer genes (e.g., CTNNA1, BRCA2), broader coverage, higher cost. | Sequences all coding regions, can identify novel genes, but complex interpretation and higher cost. |
Frequently Asked Questions
What is the CDH1 gene?
Who should get the CDH1 genetic test?
How is the test performed?
What is the cost of the CDH1 NGS test in India?
How long does it take to get results?
What does a positive result mean?
What does a negative result mean?
Can this test be done during pregnancy?
Is fasting required for this test?
Is home sample collection available?
What is the lifetime risk of gastric cancer with a CDH1 mutation?
Are there any other cancers associated with CDH1 mutations?
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✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
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