Request / Find a Test Tool

The National Genomic Test Directories specify which genomic tests are commissioned by the NHS in England, to be delivered by Genomic Laboratory Hubs.

This tool allows clinical teams to search all of the genomic tests available to patients through the National Testing Directory. From here you can find out more details about each test and information about how to order them. These tests can only be ordered by clinical teams, if you are a patient looking to request a test please speak to your clinical team directly.

CDH1-related cancer syndrome

Clinical Indication ID & Name

R215

CDH1-related cancer syndrome

Test Group

Inherited cancer

Specialties

Clinical Genetics Gastroenterology Surgery

Test code

R215.1

Test name

N/A

Target genes

CDH1

Test scope

n/a

Test method/ technology

Single gene sequencing >=10 amplicons

Optimal Family Structure

n/a

Eligibility Criteria

1. Living affected individual (proband) where the individual +/- family history meets one of the criteria.
The proband has:
a. Diffuse gastric cancer ( <50 years). b. gastric in situ signet ring cells or pagetoid spread of signet ring cells under 50 years c. diffuse gastric cancer at any age with a personal history or FDR with cleft lip or cleft palate. d. double primary diffuse gastric cancer and lobular breast cancer (both <70 years). e. diffuse gastric cancer and ≥ 1 FDR/SDR with diffuse gastric cancer at any age. f. diffuse gastric cancer at any age and ≥1 FDR/SDR with lobular breast cancer <70 years. g. Lobular breast cancer and ≥FDR/SDR has diffuse gastric cancer (≥ 1 case occurred < 70 years). h. 2 cases of lobular breast cancer<50 years e.g. bilateral or multiple ipsilateral tumours 2. Deceased affected individual (proband) where (i) the individual +/- family history meets one of the above criteria, (ii) appropriate tissue is available (tumour or normal), and (iii) no living affected individual is available for genetic testing NOTE: At least one cancer should be histologically confirmed Genetic testing may occasionally be appropriate outside these criteria following discussion at a specialist MDT with a cancer geneticist present

Test code

R215.2

Test name

N/A

Target genes

CDH1

Test scope

n/a

Test method/ technology

MLPA or equivalent

Optimal Family Structure

n/a

Eligibility Criteria

1. Living affected individual (proband) where the individual +/- family history meets one of the criteria.
The proband has:
a. Diffuse gastric cancer ( <50 years). b. gastric in situ signet ring cells or pagetoid spread of signet ring cells under 50 years c. diffuse gastric cancer at any age with a personal history or FDR with cleft lip or cleft palate. d. double primary diffuse gastric cancer and lobular breast cancer (both <70 years). e. diffuse gastric cancer and ≥ 1 FDR/SDR with diffuse gastric cancer at any age. f. diffuse gastric cancer at any age and ≥1 FDR/SDR with lobular breast cancer <70 years. g. Lobular breast cancer and ≥FDR/SDR has diffuse gastric cancer (≥ 1 case occurred < 70 years). h. 2 cases of lobular breast cancer<50 years e.g. bilateral or multiple ipsilateral tumours 2. Deceased affected individual (proband) where (i) the individual +/- family history meets one of the above criteria, (ii) appropriate tissue is available (tumour or normal), and (iii) no living affected individual is available for genetic testing NOTE: At least one cancer should be histologically confirmed Genetic testing may occasionally be appropriate outside these criteria following discussion at a specialist MDT with a cancer geneticist present

Commissioning group

Specialised

Overlapping idications

n/a

Address for samples/request forms

North Thames GLH, Rare & Inherited Disease Genomic Laboratory
Specimen Reception, Level 5 Barclay House, 37 Queen Square,
London WC1N 3BH

Contact with queries

gos-tr.norththamesgenomics@nhs.net

Supporting documents

n/a

Education resources

n/a

Service updates

n/a

Request form download

RD Non-WGS - Record of Discussion

Consent record

See consent guidance in test request form

Sample requirements

See sample guidance in test request form