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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

M189

Brain Tumour - No Further Morphological Classification - Paediatric

Test Group

Neurological Tumours

Specialties

Test code

M189.1

Test name

Multi-target NGS panel - small variant (IDH1, IDH2, BRAF, H3C2, H3C3, H3C14, H3-3A, H3-3B, TERT promoter, TP53, VHL, YAP1, SMARCA4, SMARCB1, DDX3X, CTNNB1)

Target genes

IDH1, IDH2, BRAF, H3C2, H3C3, H3C14, H3-3A, H3-3B, TERT promoter, TP53, VHL, YAP1, SMARCA4, SMARCB1, DDX3X, CTNNB1

Test scope

Small variant detection

Test method/ technology

Panel

Optimal Family Structure

n/a

Eligibility Criteria

Neuropathologist review indicates that molecular assessment will aid diagnosis or management / Specialist paediatric pathology review indicates that molecular assessment will aid diagnosis or management

Test code

M189.2

Test name

Multi-target NGS panel - structural variant (CIC, BCOR, BCOR-CCNB3, C11orf95-RELA, YAP1-C11orf95, YAP1-TFE3, EWSR1, MN1, RELA, YAP1, NTRK1, NTRK2, NTRK3)

Target genes

CIC, BCOR, BCOR-CCNB3, C11orf95-RELA, YAP1-C11orf95, YAP1-TFE3, EWSR1, MN1, RELA, YAP1, NTRK1, NTRK2, NTRK3

Test scope

Structural variant detection

Test method/ technology

Panel

Optimal Family Structure

n/a

Eligibility Criteria

Neuropathologist review indicates that molecular assessment will aid diagnosis or management / Specialist paediatric pathology review indicates that molecular assessment will aid diagnosis or management / Patient’s clinical status means they are eligible for an NTRK inhibitor in the event an NTRK rearrangement is detected

Test code

M189.3

Test name

BCOR-CCNB3 RT-PCR

Target genes

BCOR-CCNB3

Test scope

Structural variant detection

Test method/ technology

Simple targeted mutation testing

Optimal Family Structure

n/a

Eligibility Criteria

Neuropathologist review indicates that molecular assessment will aid diagnosis or management / Specialist paediatric pathology review indicates that molecular assessment will aid diagnosis or management

Test code

M189.4

Test name

C11orf95-RELA FISH/RT-PCR

Target genes

C11orf95-RELA

Test scope

Structural variant detection

Test method/ technology

FISH/Simple targeted mutation testing

Optimal Family Structure

n/a

Eligibility Criteria

Neuropathologist review indicates that molecular assessment will aid diagnosis or management / Specialist paediatric pathology review indicates that molecular assessment will aid diagnosis or management

Test code

M189.5

Test name

YAP1-C11orf95 FISH/RT-PCR

Target genes

YAP1-C11orf95

Test scope

Structural variant detection

Test method/ technology

FISH/Simple targeted mutation testing

Optimal Family Structure

n/a

Eligibility Criteria

Neuropathologist review indicates that molecular assessment will aid diagnosis or management / Specialist paediatric pathology review indicates that molecular assessment will aid diagnosis or management

Test code

M189.6

Test name

YAP1-TFE3 FISH/RT-PCR

Target genes

YAP1-TFE3

Test scope

Structural variant detection

Test method/ technology

FISH/Simple targeted mutation testing

Optimal Family Structure

n/a

Eligibility Criteria

Neuropathologist review indicates that molecular assessment will aid diagnosis or management / Specialist paediatric pathology review indicates that molecular assessment will aid diagnosis or management

Test code

M189.7

Test name

EWSR1 rearrangement FISH

Target genes

EWSR1

Test scope

Structural variant detection

Test method/ technology

FISH

Optimal Family Structure

n/a

Eligibility Criteria

Neuropathologist review indicates that molecular assessment will aid diagnosis or management / Specialist paediatric pathology review indicates that molecular assessment will aid diagnosis or management

Test code

M189.8

Test name

MN1 rearrangement FISH

Target genes

MN1

Test scope

Structural variant detection

Test method/ technology

FISH

Optimal Family Structure

n/a

Eligibility Criteria

Neuropathologist review indicates that molecular assessment will aid diagnosis or management / Specialist paediatric pathology review indicates that molecular assessment will aid diagnosis or management

Test code

M189.9

Test name

RELA rearrangement FISH/RT-PCR

Target genes

RELA

Test scope

Structural variant detection

Test method/ technology

FISH/Simple targeted mutation testing

Optimal Family Structure

n/a

Eligibility Criteria

Neuropathologist review indicates that molecular assessment will aid diagnosis or management / Specialist paediatric pathology review indicates that molecular assessment will aid diagnosis or management

Test code

M189.10

Test name

YAP1 rearrangement FISH/RT-PCR

Target genes

YAP1

Test scope

Structural variant detection

Test method/ technology

FISH/Simple targeted mutation testing

Optimal Family Structure

n/a

Eligibility Criteria

Neuropathologist review indicates that molecular assessment will aid diagnosis or management / Specialist paediatric pathology review indicates that molecular assessment will aid diagnosis or management

Test code

M189.11

Test name

SNP Array

Target genes

Dependent on clinical indication or specified request

Test scope

Copy number variant detection to genomewide resolution

Test method/ technology

Karyotype or equivalent

Optimal Family Structure

n/a

Eligibility Criteria

Neuropathologist review indicates that molecular assessment will aid diagnosis or management / Specialist paediatric pathology review indicates that molecular assessment will aid diagnosis or management

Test code

M189.12

Test name

C19MC copy number FISH

Target genes

C19MC

Test scope

Copy number variant detection to genomewide resolution

Test method/ technology

FISH

Optimal Family Structure

n/a

Eligibility Criteria

Neuropathologist review indicates that molecular assessment will aid diagnosis or management / Specialist paediatric pathology review indicates that molecular assessment will aid diagnosis or management

Test code

M189.13

Test name

SMARCA4 copy number FISH

Target genes

SMARCA4

Test scope

Copy number variant detection to genomewide resolution

Test method/ technology

FISH

Optimal Family Structure

n/a

Eligibility Criteria

Neuropathologist review indicates that molecular assessment will aid diagnosis or management / Specialist paediatric pathology review indicates that molecular assessment will aid diagnosis or management

Test code

M189.14

Test name

SMARCB1 copy number FISH

Target genes

SMARCB1

Test scope

Copy number variant detection to genomewide resolution

Test method/ technology

FISH

Optimal Family Structure

n/a

Eligibility Criteria

Neuropathologist review indicates that molecular assessment will aid diagnosis or management / Specialist paediatric pathology review indicates that molecular assessment will aid diagnosis or management

Test code

M189.15

Test name

YAP1 copy number FISH

Target genes

YAP1

Test scope

Copy number variant detection to genomewide resolution

Test method/ technology

FISH

Optimal Family Structure

n/a

Eligibility Criteria

Neuropathologist review indicates that molecular assessment will aid diagnosis or management / Specialist paediatric pathology review indicates that molecular assessment will aid diagnosis or management

Test code

M189.16

Test name

MGMT promoter hypermethylation

Target genes

MGMT

Test scope

Methylation analysis

Test method/ technology

Targeted mutation testing

Optimal Family Structure

n/a

Eligibility Criteria

Neuropathologist review indicates that molecular assessment will aid diagnosis or management / Specialist paediatric pathology review indicates that molecular assessment will aid diagnosis or management

Test code

M189.17

Test name

WGS Germline and Tumour

Target genes

All including burden / signature

Test scope

All variant types

Test method/ technology

WGS

Optimal Family Structure

n/a

Eligibility Criteria

Neuropathologist review indicates that molecular assessment will aid diagnosis or management / Specialist paediatric pathology review indicates that molecular assessment will aid diagnosis or management

Test code

M189.18

Test name

IDH1 hotspot

Target genes

IDH1

Test scope

Small variant detection

Test method/ technology

Simple targeted mutation testing

Optimal Family Structure

n/a

Eligibility Criteria

Neuropathologist review indicates that molecular assessment will aid diagnosis or management / Specialist paediatric pathology review indicates that molecular assessment will aid diagnosis or management

Test code

M189.19

Test name

IDH2 hotspot

Target genes

IDH2

Test scope

Small variant detection

Test method/ technology

Simple targeted mutation testing

Optimal Family Structure

n/a

Eligibility Criteria

Neuropathologist review indicates that molecular assessment will aid diagnosis or management / Specialist paediatric pathology review indicates that molecular assessment will aid diagnosis or management

Test code

M189.20

Test name

DNA Methylation

Target genes

Methylation status of multiple CpG sites

Test scope

Methylation analysis

Test method/ technology

Methylation array (whole genome)

Optimal Family Structure

n/a

Eligibility Criteria

Neuropathologist review indicates that molecular assessment will aid diagnosis or management / Specialist paediatric pathology review indicates that molecular assessment will aid diagnosis or management

Test code

M189.21

Test name

Multi-target NGS panel - copy number variant (C19MC, SMARCA4, SMARCB1, YAP1)

Target genes

C19MC, SMARCA4, SMARCB1, YAP1

Test scope

Copy number variant detection to exon level resolution

Test method/ technology

Panel

Optimal Family Structure

n/a

Eligibility Criteria

Neuropathologist review indicates that molecular assessment will aid diagnosis or management / Specialist paediatric pathology review indicates that molecular assessment will aid diagnosis or management

Commissioning group

n/a

Overlapping idications

n/a

Address for samples/request forms

Dept of Clinical Neuropathology
King’s College Hospital
 Denmark Hill
London
SE5 9RS

Contact with queries

kch-tr.molecularneuropathology@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

Neurological Cancer 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