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Order or find a test

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

Clinical Indication ID & Name

R414

APC associated Polyposis

Test Group

Core

Specialties

Clinical Genetics Oncology

Test code

R414.1

Test name

N/A

Target genes

APC

Test scope

n/a

Test method/ technology

Single gene sequencing >=10 amplicons

Optimal Family Structure

n/a

Eligibility Criteria

Testing Criteria
Testing in children / young adults who may be too young to have developed bowel polyps. To be done prior to colonoscopy, on the basis of one or more of the following APC-associated findings:
1. Multifocal or bilateral CHRPE as assessed by experienced Ophthalmologist, OR
2. Aggressive fibromatosis/Desmoid tumour (CTNNB1 WT where testing performed) OR
3. Cribriform-morular variant of papillary thyroid cancer OR
4. Hepatoblastoma OR
5. Multiple osteomas of skull and mandible or multiple dental abnormalities (unerupted teeth, supernumerary teeth with dentigerous cysts or odontomas) in children/young adults
6. Affected individual of any age with gastric polyposis meeting GAPPs criteria* OR
7. Medulloblastoma with polyposis
Deceased affected individual (proband) where all the following are met;
(i) the individual +/- family history meets one of the above criteria, AND
(ii) a previously stored constitutional blood/DNA or tissue sample (tumour or normal) is available, AND
(iii) no living affected individual is available for genetic testing, AND
(iv) after discussion at specialist cancer genetics MDT
*Footnote: Diagnostic criteria of GAPPS (Worthley et al. Gut. 2012 May;61(5):774-9). GAPPs criteria apply to all individuals and not just children or young adults.
Genetic testing may occasionally be appropriate outside these criteria following discussion at a specialist MDT with a cancer geneticist present

Test code

R414.2

Test name

N/A

Target genes

APC

Test scope

n/a

Test method/ technology

MLPA or equivalent

Optimal Family Structure

n/a

Eligibility Criteria

Testing Criteria
Testing in children / young adults who may be too young to have developed bowel polyps. To be done prior to colonoscopy, on the basis of one or more of the following APC-associated findings:
1. Multifocal or bilateral CHRPE as assessed by experienced Ophthalmologist, OR
2. Aggressive fibromatosis/Desmoid tumour (CTNNB1 WT where testing performed) OR
3. Cribriform-morular variant of papillary thyroid cancer OR
4. Hepatoblastoma OR
5. Multiple osteomas of skull and mandible or multiple dental abnormalities (unerupted teeth, supernumerary teeth with dentigerous cysts or odontomas) in children/young adults
6. Affected individual of any age with gastric polyposis meeting GAPPs criteria* OR
7. Medulloblastoma with polyposis
Deceased affected individual (proband) where all the following are met;
(i) the individual +/- family history meets one of the above criteria, AND
(ii) a previously stored constitutional blood/DNA or tissue sample (tumour or normal) is available, AND
(iii) no living affected individual is available for genetic testing, AND
(iv) after discussion at specialist cancer genetics MDT
*Footnote: Diagnostic criteria of GAPPS (Worthley et al. Gut. 2012 May;61(5):774-9). GAPPs criteria apply to all individuals and not just children or young adults.
Genetic testing may occasionally be appropriate outside these criteria following discussion at a specialist MDT with a cancer geneticist present

Commissioning group

Core

Overlapping idications

•R211 for individuals with polyposis who should proceed to full polyposis panel •R359 Childhood solid tumor panel

Address for samples/request forms

Genetics Laboratory
5th Floor Tower Wing
Guy’s Hospital
London
SE1 9RT

Contact with queries

gst-tr.southeastglh@nhs.net

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

Rare Disease Order Form Record of Discussion Form

Consent record

See consent guidance in test request form

Sample requirements

Sample Requirements Each sample must be sent labelled with 3 patient identifiers and must state the sample type clearly on the sample container. Sample Rejection 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