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.

APC associated Polyposis

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 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 Opthalmologist, OR
2. Aggressive fibromatois/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

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 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 Opthalmologist, OR
2. Aggressive fibromatois/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

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

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

Rare Disese WGS Clinician pack

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