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.

Melanoma – Adult

Clinical Indication ID & Name

M7

Melanoma - Adult

Test Group

Solid Tumours (Adult)

Specialties

Test code

M7.1

Test name

Multi-target NGS panel - small variant (BRAF, KIT, NRAS)

Target genes

BRAF, KIT, NRAS

Test scope

Small variant detection

Test method/ technology

Panel

Optimal Family Structure

n/a

Eligibility Criteria

Primary melanomas at high risk of recurrence i.e. stage 2C / 3 / 4 (metastatic)

Test code

M7.2

Test name

BRAF hotspot

Target genes

BRAF

Test scope

Small variant detection

Test method/ technology

Simple targeted mutation testing

Optimal Family Structure

n/a

Eligibility Criteria

Primary melanomas at high risk of recurrence i.e. stage 2C / 3 / 4 (metastatic), , in rare cases where this cannot be delivered by panel testing NB will be subject to close audit

Test code

M7.3

Test name

Multi-target NGS panel - structural variant (NTRK1, NTRK2, NTRK3)

Target genes

NTRK1, NTRK2, NTRK3

Test scope

Structural variant detection

Test method/ technology

Panel

Optimal Family Structure

n/a

Eligibility Criteria

Patient’s clinical status means they are eligible for an NTRK inhibitor in the event an NTRK rearrangement is detected

Test code

M7.5

Test name

MYB & 6cen

Target genes

6q24

Test scope

Copy number variant detection

Test method/ technology

FISH

Optimal Family Structure

n/a

Eligibility Criteria

Molecular assessment will aid diagnosis or management of equivocal melanocytic lesions of the skin

Test code

M7.6

Test name

RREB1 (6p25)

Target genes

6p25

Test scope

Copy number variant detection

Test method/ technology

FISH

Optimal Family Structure

n/a

Eligibility Criteria

Molecular assessment will aid diagnosis or management of equivocal melanocytic lesions of the skin

Test code

M7.7

Test name

CCND1 (11q13)

Target genes

11q13

Test scope

Copy number variant detection

Test method/ technology

FISH

Optimal Family Structure

n/a

Eligibility Criteria

Molecular assessment will aid diagnosis or management of equivocal melanocytic lesions of the skin

Test code

M7.8

Test name

MYC & 8cen

Target genes

8q24

Test scope

Copy number variant detection

Test method/ technology

FISH

Optimal Family Structure

n/a

Eligibility Criteria

Molecular assessment will aid diagnosis or management of equivocal melanocytic lesions of the skin

Test code

M7.9

Test name

CDKN2A & 9cen

Target genes

9p21

Test scope

Copy number variant detection

Test method/ technology

FISH

Optimal Family Structure

n/a

Eligibility Criteria

Molecular assessment will aid diagnosis or management of equivocal melanocytic lesions of the skin

Test code

M7.10

Test name

Copy number variant detection to genomewide resolution

Target genes

MYB, RREB1, CCND1, MYC, CDKN2A

Test scope

Copy number variant detection

Test method/ technology

Microarray

Optimal Family Structure

n/a

Eligibility Criteria

Molecular assessment will aid diagnosis or management of equivocal melanocytic lesions of the skin

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

Supporting documents

n/a

Education resources

n/a

Service updates

n/a

Request form download

Consent record

See consent guidance in test request form

Sample requirements

See sample guidance in test request form