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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

M194

Medulloblastoma all Subtypes

Test Group

Neurological Tumours

Specialties

Test code

M194.1

Test name

Multi-target NGS panel - small variant (ALK, BCOR, CTNNB1, DDX3X, DDX3X, EZH2, MYCN, PTCH1, PTCH2, PTEN, SMARCA4, SMO, SUFU, TERT promoter, TP53, YAP1)

Target genes

ALK, BCOR, CTNNB1, DDX3X, DDX3X, EZH2, MYCN, PTCH1, PTCH2, PTEN, SMARCA4, SMO, SUFU, TERT promoter, TP53, YAP1

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

Test code

M194.2

Test name

ALK rearrangement FISH

Target genes

ALK

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

Test code

M194.3

Test name

BCOR rearrangement FISH

Target genes

BCOR

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

Test code

M194.4

Test name

MYC rearrangement FISH

Target genes

MYC

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

Test code

M194.5

Test name

PVT1-MYC FISH/RT-PCR

Target genes

PVT1-MYC

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

Test code

M194.6

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

Test code

M194.7

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

Test code

M194.8

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

Test code

M194.9

Test name

ALK copy number FISH

Target genes

ALK

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

Test code

M194.10

Test name

BCOR copy number FISH

Target genes

BCOR

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

Test code

M194.11

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

Test code

M194.12

Test name

DDX3X copy number FISH

Target genes

DDX3X

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

Test code

M194.13

Test name

MYC copy number FISH

Target genes

MYC

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

Test code

M194.14

Test name

MYCN copy number FISH

Target genes

MYCN

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

Test code

M194.15

Test name

PTCH1 copy number FISH

Target genes

PTCH1

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

Test code

M194.16

Test name

PTEN (10q23) copy number FISH/RT-PCR

Target genes

PTEN

Test scope

Copy number variant detection to genomewide resolution

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

Test code

M194.17

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

Test code

M194.18

Test name

SMO copy number FISH

Target genes

SMO

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

Test code

M194.19

Test name

TERT copy number FISH

Target genes

TERT

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

Test code

M194.20

Test name

del(17p) TP53 copy number FISH

Target genes

TP53

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

Test code

M194.21

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

Test code

M194.22

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

Test code

M194.23

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

Test code

M194.24

Test name

Multi-target NGS panel - structural variant (ALK, BCOR, MYC, PVT1-MYC, YAP1-C11orf95, YAP1-TFE3, NTRK1, NTRK2, NTRK3)

Target genes

ALK, BCOR, MYC, PVT1-MYC, YAP1-C11orf95, YAP1-TFE3, 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 / Patient’s clinical status means they are eligible for an NTRK inhibitor in the event an NTRK rearrangement is detected

Test code

M194.25

Test name

Multi-target NGS panel - copy number variant (ALK, BCOR, C19MC, DDX3X, MYC, MYCN, PTCH1, PTEN, SMARCA4, SMO, TERT, TP53, YAP1)

Target genes

ALK, BCOR, C19MC, DDX3X, MYC, MYCN, PTCH1, PTEN, SMARCA4, SMO, TERT, TP53, 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

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