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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

M124

Clear Cell Kidney Sarcoma - Paediatric

Test Group

Paediatric

Specialties

Test code

M124.1

Test name

Multi-target NGS panel - small variant (BCOR)

Target genes

BCOR

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

M124.2

Test name

BCOR seq

Target genes

BCOR

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

M124.3

Test name

BCOR copy number FISH

Target genes

BCOR

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

M124.4

Test name

BCOR rearrangement FISH

Target genes

BCOR

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

M124.5

Test name

NUTM2B-YWHAE FISH/RT-PCR

Target genes

NUTM2B-YWHAE

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

M124.6

Test name

NUTM2E-YWHAE FISH/RT-PCR

Target genes

NUTM2E-YWHAE

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

M124.7

Test name

NUTM1-YWHAE FISH/RT-PCR

Target genes

NUTM1-YWHAE

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

M124.8

Test name

YWHAE copy number FISH

Target genes

YWHAE

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

M124.9

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

M124.10

Test name

Multi-target NGS panel - structural variant (BCOR, NUTM2B-YWHAE, NUTM2E-YWHAE, NUTM1-YWHAE, NTRK1, NTRK2, NTRK3)

Target genes

BCOR, NUTM2B-YWHAE, NUTM2E-YWHAE, NUTM1-YWHAE, 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

M124.11

Test name

Multi-target NGS panel - copy number variant (BCOR, YWHAE)

Target genes

BCOR, YWHAE

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

Dept of Clinical Neuropathology
King’s College Hospital
 Denmark Hill
London
SE5 9RS

Contact with queries

kch-tr.molecularneuropathology@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

Neurological Cancer Order 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