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E-Cadherin Mutation Analysis
Short Description : E-Cadherin mutation analysis for susceptibility to Diffuse Gastric Cancer
Also known as : [HDGC],[Hereditary Diffuse Gastric Cancer]

Test performed by: LabPLUS - Dept. Diagnostic Genetics - Molecular Genetics

Referral Requirements

Important Note:

Diagnostic referrals through Gastroenterology or Genetic Services only.

Cascade testing only through Genetic Services.


Gastroenterology can be contacted on (09) 307 4949 ext. 25588.

Genetic Health Service NZ can be contacted on 0800 476 123.


Specimen Collection
EDTA8 mL Adult EDTA Blood
EDTA4 mL Paediatric EDTA Blood


A minimum of 0.5ml can be processed. However, sufficient DNA for downstream testing cannot be guaranteed if less than 4.0ml blood is collected.

Transport all bloods at room temperature within 24-48 hours. If necessary specimens can be refrigerated overnight for transport at room temperature the following day.

For testing of other sample types please contact the laboratory prior to sending.

Turnaround Time: Within 13 weeks
Contact Information

Contact Molecular Genetics via:

Lablink                                                     ext 22000

Mark Greenslade (Technical Head)   ext 22010

Pippa Grainger (Section leader)              ext 22014

Email: DGen@adhb.govt.nz

Background Information

Hereditary diffuse gastric cancer (HDGC) is autosomal dominant susceptibility for diffuse gastric cancer, a poorly differentiated adenocarcinoma that infiltrates into the stomach wall causing thickening of the wall (linitis plastica) without forming a distinct mass. Diffuse gastric cancer is also referred to as signet ring carcinoma or isolated cell-type carcinoma. The average age of onset of HDGC is 38 years, with a range of 14-69 years. The majority of the cancers in individuals with a CDH1 mutation occur before age 40 years. The estimated cumulative risk of gastric cancer by age 80 years is 80% for both men and women. Women also have a 39%-52% risk for lobular breast cancer.

The International Gastric Cancer Linkage Consortium defined HDGC as the presence of two or more documented cases of diffuse gastric cancer in first- or second-degree relatives with at least one case diagnosed prior to age 50 years OR three or more documented cases of diffuse gastric cancer in first- or second-degree relatives, regardless of age of onset. CDH1 is currently the only gene in which mutations are known to cause hereditary diffuse gastric cancer.

Molecular genetic testing of CDH1 is available.

For more information about the Molecular Genetics service:

Molecular Genetics information page

Last updated at 15:49:04 22/03/2021