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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

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

South East HMDS
c/o Central Specimen Reception
Synnovis Analytics
Ground Floor Bessemer Wing
King’s College Hospital
Denmark Hill, London SE5 9RS

Contact with queries

kch-tr.sehmdsreception@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

Cancer Haematology Order Form Haematology Sample Log 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