Request / Find a Test Tool

The National Genomic Test Directories specify which genomic tests are commissioned by the NHS in England, to be delivered by Genomic Laboratory Hubs.

This tool allows clinical teams to search all of the genomic tests available to patients through the National Testing Directory. From here you can find out more details about each test and information about how to order them. These tests can only be ordered by clinical teams, if you are a patient looking to request a test please speak to your clinical team directly.

High Grade Intrinsic Brain Tumour Differential – Adult

Clinical Indication ID & Name

M192

High Grade Intrinsic Brain Tumour Differential - Adult

Test Group

Neurological Tumours

Specialties

Test code

M192.1

Test name

Multi-target NGS panel - small variant (IDH1, IDH2, ATRX, H3-3A, H3-3B, H3C2, H3C3, H3C14, BRAF, TERT promoter, CDKN2B, TP53, VHL, NF1)

Target genes

IDH1, IDH2, ATRX, H3-3A, H3-3B, H3C2, H3C3, H3C14, BRAF, TERT promoter, CDKN2B, TP53, VHL, NF1

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

M192.2

Test name

BRAF-AGK FISH/RT-PCR

Target genes

BRAF-AGK

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

M192.3

Test name

BRAF-AKAP9 FISH/RT-PCR

Target genes

BRAF-AKAP9

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

M192.4

Test name

BRAF-CCDC6 FISH/RT-PCR

Target genes

BRAF-CCDC6

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

M192.5

Test name

BRAF-FAM118B FISH/RT-PCR

Target genes

BRAF-FAM118B

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

M192.6

Test name

BRAF-FXR1 FISH/RT-PCR

Target genes

BRAF-FXR1

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

M192.7

Test name

BRAF-GNAI1 FISH/RT-PCR

Target genes

BRAF-GNAI1

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

M192.8

Test name

BRAF-KIAA1549 FISH/RT-PCR

Target genes

BRAF-KIAA1549

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

M192.9

Test name

BRAF-MACF1 FISH/RT-PCR

Target genes

BRAF-MACF1

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

M192.10

Test name

BRAF rearrangement FISH

Target genes

BRAF

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

M192.11

Test name

Multi-target NGS panel - copy number variant (EGFR)

Target genes

EGFR

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

Test code

M192.12

Test name

1p19q codel FISH/RT-PCR

Target genes

1p19q codel

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

M192.13

Test name

CDKN2A copy number FISH

Target genes

CDKN2A

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

M192.14

Test name

EGFR copy number FISH

Target genes

EGFR

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

M192.15

Test name

EGFRvIII RT-PCR

Target genes

EGFRvIII

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

Test code

M192.16

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

M192.17

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

Test code

M192.18

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

Test code

M192.19

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

Test code

M192.20

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

Test code

M192.21

Test name

Multi-target NGS panel - structural variant (BRAF-KIAA1549, BRAF-AGK, BRAF-AKAP9, BRAF-CCDC6, BRAF-FAM118B, BRAF-FXR1, BRAF-GNAI1, BRAF-MACF1, other rearrangements of BRAF, EGFRvIII, NTRK1, NTRK2, NTRK3)

Target genes

BRAF-KIAA1549, BRAF-AGK, BRAF-AKAP9, BRAF-CCDC6, BRAF-FAM118B, BRAF-FXR1, BRAF-GNAI1, BRAF-MACF1, BRAF, EGFRvIII, 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

M192.22

Test name

Multi-target NGS panel - copy number variant (1p, 19q, EGFR, CDKN2A, PTEN)

Target genes

1p19qcodel, EGFR, CDKN2A, PTEN

Test scope

Copy number variant detection to exon level resolution / Copy number variant detection to genomewide resolution

Test method/ technology

Panel

Optimal Family Structure

n/a

Eligibility Criteria

Neuropathologist review indicates that molecular assessment will aid diagnosis or management

Test code

M192.23

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

Molecular assessment will aid diagnosis or management

Commissioning group

n/a

Overlapping idications

n/a

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

rmh-tr.moleculardiagnostics@nhs.net

Supporting documents

Cancer WGS Clinician pack

Education resources

n/a

Service updates

n/a

Request form download

n/a

Consent record

See consent guidance in test request form

Sample requirements

See sample guidance in test request form