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.

Histiocytosis

Clinical Indication ID & Name

M117

Histiocytosis

Test Group

Haematology

Specialties

Test code

M117.1

Test name

Multi-target NGS panel - small variant (BRAF, MAP2K1, NRAS, KRAS, HRAS, ERBB3, ARAF, MAP3K1, PIK3CA, PIK3CD)

Target genes

BRAF, MAP2K1, NRAS, KRAS, HRAS, ERBB3, ARAF, MAP3K1, PIK3CA, PIK3CD

Test scope

Small variant detection

Test method/ technology

Panel

Optimal Family Structure

n/a

Eligibility Criteria

All subtypes where there is diagnostic uncertainty between benign and malignant process

Test code

M117.2

Test name

Multi-target NGS panel - structural variant (To include EML4-ALK, TPM3-ALK, KIF5B-ALK, MIGA1-BRAF, PACSIN2-BRAF, RNF11-BRAF, CLIP3-BRAF, LMNA-NTRK1, TPR-NTRK1, ETV3-NCOA2, rearrangements of ALK, BRAF, NTRK1)

Target genes

To include EML4-ALK, TPM3-ALK, KIF5B-ALK, MIGA1-BRAF, PACSIN2-BRAF, RNF11-BRAF, CLIP3-BRAF, LMNA-NTRK1, TPR-NTRK1, ETV3-NCOA2, rearrangements of ALK, BRAF, NTRK1

Test scope

Structural variant detection

Test method/ technology

Panel

Optimal Family Structure

n/a

Eligibility Criteria

All subtypes where there is diagnostic uncertainty between benign and malignant process

Test code

M117.3

Test name

ALK rearrangement FISH

Target genes

ALK

Test scope

Structural variant detection

Test method/ technology

FISH

Optimal Family Structure

n/a

Eligibility Criteria

All subtypes where there is diagnostic uncertainty between benign and malignant process

Test code

M117.4

Test name

EML4-ALK FISH/RT-PCR

Target genes

EML4-ALK

Test scope

Structural variant detection

Test method/ technology

FISH/Simple targeted mutation testing

Optimal Family Structure

n/a

Eligibility Criteria

All subtypes where there is diagnostic uncertainty between benign and malignant process

Test code

M117.5

Test name

TPM3-ALK FISH/RT-PCR

Target genes

TPM3-ALK

Test scope

Structural variant detection

Test method/ technology

FISH/Simple targeted mutation testing

Optimal Family Structure

n/a

Eligibility Criteria

All subtypes where there is diagnostic uncertainty between benign and malignant process

Test code

M117.6

Test name

KIF5B-ALK FISH/RT-PCR

Target genes

KIF5B-ALK

Test scope

Structural variant detection

Test method/ technology

FISH/Simple targeted mutation testing

Optimal Family Structure

n/a

Eligibility Criteria

All subtypes where there is diagnostic uncertainty between benign and malignant process

Test code

M117.7

Test name

BRAF rearrangement FISH

Target genes

BRAF

Test scope

Structural variant detection

Test method/ technology

FISH

Optimal Family Structure

n/a

Eligibility Criteria

All subtypes where there is diagnostic uncertainty between benign and malignant process

Test code

M117.8

Test name

MIGA1-BRAF FISH/RT-PCR

Target genes

MIGA1-BRAF

Test scope

Structural variant detection

Test method/ technology

FISH/Simple targeted mutation testing

Optimal Family Structure

n/a

Eligibility Criteria

All subtypes where there is diagnostic uncertainty between benign and malignant process

Test code

M117.9

Test name

PACSIN2-BRAF FISH/RT-PCR

Target genes

PACSIN2-BRAF

Test scope

Structural variant detection

Test method/ technology

FISH/Simple targeted mutation testing

Optimal Family Structure

n/a

Eligibility Criteria

All subtypes where there is diagnostic uncertainty between benign and malignant process

Test code

M117.10

Test name

RNF11-BRAF FISH/RT-PCR

Target genes

RNF11-BRAF

Test scope

Structural variant detection

Test method/ technology

FISH/Simple targeted mutation testing

Optimal Family Structure

n/a

Eligibility Criteria

All subtypes where there is diagnostic uncertainty between benign and malignant process

Test code

M117.11

Test name

CLIP3-BRAF FISH/RT-PCR

Target genes

CLIP3-BRAF

Test scope

Structural variant detection

Test method/ technology

FISH/Simple targeted mutation testing

Optimal Family Structure

n/a

Eligibility Criteria

All subtypes where there is diagnostic uncertainty between benign and malignant process

Test code

M117.12

Test name

NTRK1 rearrangement FISH

Target genes

NTRK1

Test scope

Structural variant detection

Test method/ technology

FISH

Optimal Family Structure

n/a

Eligibility Criteria

All subtypes where there is diagnostic uncertainty between benign and malignant process

Test code

M117.13

Test name

LMNA-NTRK1 FISH/RT-PCR

Target genes

LMNA-NTRK1

Test scope

Structural variant detection

Test method/ technology

FISH/Simple targeted mutation testing

Optimal Family Structure

n/a

Eligibility Criteria

All subtypes where there is diagnostic uncertainty between benign and malignant process

Test code

M117.14

Test name

TPR-NTRK1 FISH/RT-PCR

Target genes

TPR-NTRK1

Test scope

Structural variant detection

Test method/ technology

FISH/Simple targeted mutation testing

Optimal Family Structure

n/a

Eligibility Criteria

All subtypes where there is diagnostic uncertainty between benign and malignant process

Test code

M117.15

Test name

ETV3-NCOA2 FISH/RT-PCR

Target genes

ETV3-NCOA2

Test scope

Structural variant detection

Test method/ technology

FISH/Simple targeted mutation testing

Optimal Family Structure

n/a

Eligibility Criteria

All subtypes where there is diagnostic uncertainty between benign and malignant process

Test code

M117.16

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

For paediatric patients only

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

n/a

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