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.

Inherited polyposis and early onset colorectal cancer – germline testing

Clinical Indication ID & Name

R211

Inherited polyposis and early onset colorectal cancer - germline testing

Test Group

Core

Specialties

Clinical Genetics Gastroenterology Surgery

Test code

R211.1

Test name

N/A

Target genes

Inherited polyposis (504)

Test scope

n/a

Test method/ technology

Small panel

Optimal Family Structure

n/a

Eligibility Criteria

Living affected individual (proband) with colorectal polyps where the individual +/- family history meets one of the criteria. The proband has:
1. Any colorectal cancer diagnosis under 40 years
2. ≥5 adenomatous polyps and colorectal cancer, OR
3. ≥5 adenomatous polyps (age <40 years), OR 4. ≥10 adenomatous polyps (age <60 years, OR 5. ≥20 adenomatous polyps (age ≥ 60 years), OR 6. ≥5 adenomatous polyps (age <60 years) and first degree relative with ≥5 adenomatous polyps (age <60 years), OR 7. Serrated polyposis: a. Five or more serrated lesions/polyps proximal to the rectum all being at least 5 mm in size with two or more being at least 10mm in size, b. More than 20 serrated lesions/polyps of any size distributed through the large bowel with at least five being proximal to the rectum. 8. Hamartomatous polyposis syndromes: a. ≥ 5 hamartomatous polyps of the colorectum, OR b. ≥ 2 hamartomatous polyps throughout the GI tract, OR c. ≥ 1 hamartomatous polyp and a first / second degree relative has hamartomatous polyp. NOTE: The majority of polyps are histologically confirmed

Test code

R211.2

Test name

N/A

Target genes

Inherited polyposis (504)

Test scope

n/a

Test method/ technology

Exon level CNV detection by MLPA or equivalent

Optimal Family Structure

n/a

Eligibility Criteria

Living affected individual (proband) with colorectal polyps where the individual +/- family history meets one of the criteria. The proband has:
1. Any colorectal cancer diagnosis under 40 years
2. ≥5 adenomatous polyps and colorectal cancer, OR
3. ≥5 adenomatous polyps (age <40 years), OR 4. ≥10 adenomatous polyps (age <60 years, OR 5. ≥20 adenomatous polyps (age ≥ 60 years), OR 6. ≥5 adenomatous polyps (age <60 years) and first degree relative with ≥5 adenomatous polyps (age <60 years), OR 7. Serrated polyposis: a. Five or more serrated lesions/polyps proximal to the rectum all being at least 5 mm in size with two or more being at least 10mm in size, b. More than 20 serrated lesions/polyps of any size distributed through the large bowel with at least five being proximal to the rectum. 8. Hamartomatous polyposis syndromes: a. ≥ 5 hamartomatous polyps of the colorectum, OR b. ≥ 2 hamartomatous polyps throughout the GI tract, OR c. ≥ 1 hamartomatous polyp and a first / second degree relative has hamartomatous polyp. NOTE: The majority of polyps are histologically confirmed

Commissioning group

Core

Overlapping idications

• Inherited polyposis – somatic test should be used if no living affected individual is available for germline testing, no germline DNA sample has been stored from a deceased affected individual, and a molecular diagnosis is required to advise living relatives • M1 Colorectal carcinoma should be used for somatic testing

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