Clinical Indication ID & Name
Inherited polyposis and early onset colorectal cancer - germline testing
Test Group
Core
Specialties
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
Supporting documents
Rare Disese WGS Clinician pack
Education resources
n/a
Service updates
n/a
Request form download
Consent record
See consent guidance in test request form
Sample requirements
See sample guidance in test request form