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
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
North Thames GLH, Rare & Inherited Disease Genomic Laboratory
Specimen Reception, Level 5 Barclay House, 37 Queen Square,
London WC1N 3BH
Contact with queries
Supporting documents
Rare Disese WGS Clinician pack
Education resources
n/a
Service updates
n/a
Request form download
Consent record
See consent guidance in test request form
Sample requirements
See sample guidance in test request form