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.

Atypical Teratoid/Rhabdoid Tumour – Paediatric

Clinical Indication ID & Name

M120

Atypical Teratoid/Rhabdoid Tumour - Paediatric

Test Group

Paediatric

Specialties

Test code

M120.1

Test name

Multi-target NGS panel - small variant (SMARCA4, SMARCB1)

Target genes

SMARCA4, SMARCB1

Test scope

Small variant detection

Test method/ technology

Panel

Optimal Family Structure

n/a

Eligibility Criteria

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

Test code

M120.2

Test name

SMARCA4 seq

Target genes

SMARCA4

Test scope

Small variant detection

Test method/ technology

Single gene sequencing

Optimal Family Structure

n/a

Eligibility Criteria

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

Test code

M120.3

Test name

SMARCB1 seq

Target genes

SMARCB1

Test scope

Small variant detection

Test method/ technology

Single gene sequencing

Optimal Family Structure

n/a

Eligibility Criteria

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

Test code

M120.4

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

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

Test code

M120.5

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

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

Test code

M120.6

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, BRAF, NTRK1, NTRK2, NTRK3

Test scope

Structural variant detection

Test method/ technology

Panel

Optimal Family Structure

n/a

Eligibility Criteria

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

M120.7

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

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

Test code

M120.8

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

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

Test code

M120.9

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

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

Test code

M120.10

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

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

Test code

M120.11

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

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

Test code

M120.12

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

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

Test code

M120.13

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

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

Test code

M120.14

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

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

Test code

M120.15

Test name

BRAF rearrangement FISH

Target genes

BRAF

Test scope

Structural variant detection

Test method/ technology

FISH

Optimal Family Structure

n/a

Eligibility Criteria

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

Test code

M120.16

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

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

Test code

M120.17

Test name

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

Target genes

SMARCA4, SMARCB1

Test scope

Copy number variant detection to exon level resolution

Test method/ technology

Panel

Optimal Family Structure

n/a

Eligibility Criteria

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

Test code

M120.18

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

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