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
Genetics Laboratory
5th Floor Tower Wing
Guy’s Hospital
London
SE1 9RT
Contact with queries
Supporting documents
n/a
Education resources
n/a
Turn around times
All our turnaround times are listed on our specific turn around page https://southeastgenomics.nhs.uk/professionals/service-turn-around-times/
Request form download
Consent record
See consent guidance in test request form
Sample requirements
Samples may be rejected for the following reasons: 1.Samples and request form do not show at least three identical patient identifiers 2.The sample is in the incorrect collection media 3.The request form is not sufficiently completed 4.The sample is not of sufficient volume 5.The sample is too old