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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

M139

Glioblastoma - Paediatric

Test Group

Paediatric

Specialties

Test code

M139.1

Test name

Multi-target NGS panel - small variant (BRAF, CDKN2A, FGFR4)

Target genes

BRAF, CDKN2A, FGFR4

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

M139.2

Test name

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

Target genes

BRAF-KIAA1549, BRAF-FXR1, BRAF-AGK, BRAF-AKAP9, BRAF-CCDC6, BRAF-FAM118B, BRAF-GNAI1, BRAF-MACF1, other rearrangements of 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 / 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

M139.3

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

Test code

M139.4

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

Test code

M139.5

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

Test code

M139.6

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

Test code

M139.7

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

Test code

M139.8

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

Test code

M139.9

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

Test code

M139.10

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

Test code

M139.12

Test name

CDKN2A seq

Target genes

CDKN2A

Test scope

Small variant detection

Test method/ technology

Single gene sequencing

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

M139.13

Test name

FGFR4 seq

Target genes

FGFR4

Test scope

Small variant detection

Test method/ technology

Single gene sequencing

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

M139.14

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

Test code

M139.15

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

Test code

M139.16

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

M139.17

Test name

Multi-target NGS panel - copy number variant (CDKN2A)

Target genes

CDKN2A

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

Test code

M139.18

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

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