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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

R220

Wilms tumour with features suggestive of predisposition

Test Group

Inherited cancer

Specialties

Clinical Genetics Oncology

Test code

R220.1

Test name

N/A

Target genes

WT1; CDKN1C; TRIM28; REST; CTR9

Test scope

n/a

Test method/ technology

Small panel

Optimal Family Structure

n/a

Eligibility Criteria

Wilms tumour, multiple nephrogenic rests or nephroblastomatosis with ONE or more of the following:
1. diagnosis <2 years, OR 2. Bilateral disease, OR 3. multifocal disease, OR 4.. Family history of Wilms tumour, OR 5. Unexplained proteinuria or renal failure, OR 6. Hypospadias, undescended testes or ambiguous genitalia, OR 7. Gonadoblastoma

Test code

R220.2

Test name

N/A

Target genes

WT1; CDKN1C; TRIM28; REST; CTR9

Test scope

n/a

Test method/ technology

MLPA or equivalent

Optimal Family Structure

n/a

Eligibility Criteria

Wilms tumour, multiple nephrogenic rests or nephroblastomatosis with ONE or more of the following:
1. diagnosis <2 years, OR 2. Bilateral disease, OR 3. multifocal disease, OR 4.. Family history of Wilms tumour, OR 5. Unexplained proteinuria or renal failure, OR 6. Hypospadias, undescended testes or ambiguous genitalia, OR 7. Gonadoblastoma

Test code

R220.3

Test name

N/A

Target genes

11p15 imprinted growth regulatory region

Test scope

n/a

Test method/ technology

Methylation testing

Optimal Family Structure

n/a

Eligibility Criteria

Wilms tumour, multiple nephrogenic rests or nephroblastomatosis with ONE or more of the following:
1. diagnosis <2 years, OR 2. Bilateral disease, OR 3. multifocal disease, OR 4.. Family history of Wilms tumour, OR 5. Unexplained proteinuria or renal failure, OR 6. Hypospadias, undescended testes or ambiguous genitalia, OR 7. Gonadoblastoma

Test code

R220.4

Test name

N/A

Target genes

11p15 imprinted growth regulatory region

Test scope

n/a

Test method/ technology

MLPA or equivalent

Optimal Family Structure

n/a

Eligibility Criteria

Wilms tumour, multiple nephrogenic rests or nephroblastomatosis with ONE or more of the following:
1. diagnosis <2 years, OR 2. Bilateral disease, OR 3. multifocal disease, OR 4.. Family history of Wilms tumour, OR 5. Unexplained proteinuria or renal failure, OR 6. Hypospadias, undescended testes or ambiguous genitalia, OR 7. Gonadoblastoma

Commissioning group

Specialised

Overlapping idications

• Individuals with aniridia should be tested via the R38 Aniridia indication • Individuals with hemihypertrophy, macroglossia or multiple features suggestive of BeckwithWiedemann should be tested via the R50 Isolated hemihypertrophy or macroglossia or R49 Beckwith Wiedemann syndrome indication • M18 Renal cell carcinoma or the associated pediatric cancer clinical indication (M173, M180, M165, M212) should be used for somatic testing Genetic testing may occasionally be appropriate outside these criteria following discussion at a specialist MDT with a cancer geneticist present

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

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