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.

Renal Tumour Differential – Paediatric

Clinical Indication ID & Name

M212

Renal Tumour Differential - Paediatric

Test Group

Paediatric

Specialties

Test code

M212.1

Test name

Multi-target NGS panel - small variant (CTNNB1, DAXX, ATRX, TP53, TFE3)

Target genes

CTNNB1, DAXX, ATRX, TP53, TFE3

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

M212.2

Test name

ATRX seq

Target genes

ATRX

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

M212.3

Test name

CTNNB1 seq

Target genes

CTNNB1

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

M212.4

Test name

DAXX seq

Target genes

DAXX

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

M212.5

Test name

TFE3 seq

Target genes

TFE3

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

M212.6

Test name

TP53 seq

Target genes

TP53

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

M212.7

Test name

ATRX copy number FISH

Target genes

ATRX

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

M212.8

Test name

del(17p) TP53 copy number FISH

Target genes

TP53

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

M212.9

Test name

WT1 copy number FISH

Target genes

WT1

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

M212.10

Test name

TFEB-MALAT1 FISH/RT-PCR

Target genes

TFEB-MALAT1

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

M212.11

Test name

TFE3-ASPSCR1 FISH/RT-PCR

Target genes

TFE3-ASPSCR1

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

M212.12

Test name

TFE3-MITF FISH/RT-PCR

Target genes

TFE3-MITF

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

M212.13

Test name

TFE3-PRCC FISH/RT-PCR

Target genes

TFE3-PRCC

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

M212.14

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

M212.15

Test name

Multi-target NGS panel - structural variant (TFEB-MALAT1, TFE3-ASPSCR1, TFE3-MITF, TFE3-PRCC, NTRK1, NTRK2, NTRK3)

Target genes

TFEB-MALAT1, TFE3-ASPSCR1, TFE3-MITF, TFE3-PRCC, 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

M212.16

Test name

Multi-target NGS panel - copy number variant (ATRX, TP53, WT1)

Target genes

ATRX, TP53, WT1

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

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