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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

R456

Embryonal tumour of possible germline origin

Test Group

Inherited cancer

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