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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

M191

Low Grade Intrinsic Brain Tumour Differential - Adult

Test Group

Neurological Tumours

Specialties

Test code

M191.1

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

M191.2

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

M191.3

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

M191.4

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

M191.5

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

M191.6

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

M191.7

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

M191.8

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

M191.9

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

M191.10

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

M191.11

Test name

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

Target genes

1p19q, 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

M191.12

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

M191.13

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

M191.14

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

M191.15

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

M191.16

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

M191.17

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

M191.18

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

M191.19

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

M191.20

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

M191.21

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, 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

M191.22

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

Molecular assessment will aid diagnosis or management

Commissioning group

n/a

Overlapping idications

n/a

Address for samples/request forms

SYNNOVIS ANALYTICS MOLECULAR PATHOLOGY LABORATORY
Molecular Pathology c/o Central Specimen Reception,
Blood Sciences Laboratory,
Ground Floor Bessemer Wing,
King’s College Hospital,
Denmark Hill,
London,
SE5 9RS

Contact with queries

kch-tr.pnd@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

Rare Disease 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