Clinical Indication ID & Name
Embryonal tumour of possible germline origin
Test Group
Inherited cancer
Specialties
Test code
R456.1
Test name
Embryonal tumour of possible germline origin
Target genes
Test scope
SNVs, CNVs
Test method/ technology
Medium panel
Optimal Family Structure
n/a
Eligibility Criteria
Testing Criteria
Living individual with any of the following:
1) 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
2) Neuroblastoma
AND
1. Bilateral neuroblastoma, or multiple neuroblastoma, OR
2. One or more FDR/SDR/TDR with neuroblastoma, OR
3. Hirschsprung's or FDR/SDR/TDR with Hirschsprung's in FDR/SDR/TDR, OR
4. Congenital hypoventilation or FDR/SDR/TDR with congenital hypoventilation
3) Medulloblastoma <25 with subgroup sonic hedgehog (MB-SHH) where other germline panel or paired WGS has not been undertaken
4) Atypical teratoid/rhabdoid tumour OR Small cell carcinoma of the ovary, hypercalcaemic type (SCCOHT) (any age)
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
Referrals for testing will be triaged by the Genomic Laboratory; testing should be targeted at those where a genetic or genomic diagnosis will guide management for the proband or family.
Where in Pathway
At presentation/at follow-up
Test code
R456.2
Test name
Embryonal tumour of possible germline origin
Target genes
Test scope
Methylation CNVs
Test method/ technology
Methylation testing
Optimal Family Structure
n/a
Eligibility Criteria
Testing Criteria
Living individual with any of the following:
1) 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
2) Neuroblastoma
AND
1. Bilateral neuroblastoma, or multiple neuroblastoma, OR
2. One or more FDR/SDR/TDR with neuroblastoma, OR
3. Hirschsprung's or FDR/SDR/TDR with Hirschsprung's in FDR/SDR/TDR, OR
4. Congenital hypoventilation or FDR/SDR/TDR with congenital hypoventilation
3) Medulloblastoma <25 with subgroup sonic hedgehog (MB-SHH) where other germline panel or paired WGS has not been undertaken
4) Atypical teratoid/rhabdoid tumour OR Small cell carcinoma of the ovary, hypercalcaemic type (SCCOHT) (any age)
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
Referrals for testing will be triaged by the Genomic Laboratory; testing should be targeted at those where a genetic or genomic diagnosis will guide management for the proband or family.
Where in Pathway
At presentation/at follow-up
Commissioning group
n/a
Overlapping idications
n/a
Address for samples/request forms
Contact with queries
Supporting documents
n/a
Education resources
n/a
Turn around times
n/a
Request form download
n/a
Consent record
n/a
Sample requirements
n/a