Clinical Indication ID & Name
Wilms tumour with features suggestive of predisposition
Test Group
Inherited cancer
Specialties
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
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
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
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
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
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
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
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
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
Please refer to the test request form.
Contact with queries
Supporting documents
n/a
Education resources
n/a
Service updates
n/a
Request form download
Form not available, please contact us to enquire.
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 Sample Storage and Volume Required: Perirpheral blood in an EDTA tube: Adult and children 4 ml, Infants (0-2 years) 1 ml or a DNA sample (3-5µg of purified DNA). Where it is not possible to collect peripheral blood we will accept a saliva sample (please contact the lab for specific details). Storage, sample packing and transportation: Blood should be stored at 4°C where possible. Send at room temperature by first class post or by courier. Patient/Clinician Instructions: N/A Factors affecting performance of test/interpretation of results: Clotted samples are unsuitable for DNA analysis. Blood Samples in incorrect anticoagulant tubes may be rejected.