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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

M205

Cartilage Forming Bone Tumour Differential

Test Group

Sarcomas

Specialties

Test code

M205.1

Test name

Multi-target NGS panel - small variant (H3-3A, H3-3B, IDH1, IDH2)

Target genes

H3-3A, H3-3B, IDH1, IDH2

Test scope

Small variant detection

Test method/ technology

Panel

Optimal Family Structure

n/a

Eligibility Criteria

Specialist sarcoma pathology review indicates that molecular assessment will aid diagnosis or management

Test code

M205.2

Test name

H3-3B hotspot

Target genes

H3-3B

Test scope

Small variant detection

Test method/ technology

Simple targeted mutation testing

Optimal Family Structure

n/a

Eligibility Criteria

Specialist sarcoma pathology review indicates that molecular assessment will aid diagnosis or management

Test code

M205.3

Test name

H3-3A seq

Target genes

H3-3A

Test scope

Small variant detection

Test method/ technology

Single gene sequencing

Optimal Family Structure

n/a

Eligibility Criteria

Specialist sarcoma pathology review indicates that molecular assessment will aid diagnosis or management

Test code

M205.4

Test name

H3-3B seq

Target genes

H3-3B

Test scope

Small variant detection

Test method/ technology

Single gene sequencing

Optimal Family Structure

n/a

Eligibility Criteria

Specialist sarcoma pathology review indicates that molecular assessment will aid diagnosis or management

Test code

M205.5

Test name

HEY1-NCOA2 RT-PCR

Target genes

HEY1-NCOA2

Test scope

Structural variant detection

Test method/ technology

Simple targeted mutation testing

Optimal Family Structure

n/a

Eligibility Criteria

Specialist sarcoma pathology review indicates that molecular assessment will aid diagnosis or management

Test code

M205.6

Test name

SNP Array

Target genes

Dependent on clinical indication or specified request

Test scope

Copy number variant detection to genomewide resolution

Test method/ technology

Karyotype or equivalent

Optimal Family Structure

n/a

Eligibility Criteria

Specialist sarcoma pathology review indicates that molecular assessment will aid diagnosis or management

Test code

M205.7

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 sarcoma pathology review indicates that molecular assessment will aid diagnosis or management

Test code

M205.8

Test name

Multi-target NGS panel - structural variant (HEY1-NCOA2, NTRK1, NTRK2, NTRK3)

Target genes

HEY1-NCOA2, NTRK1, NTRK2, NTRK3

Test scope

Structural variant detection

Test method/ technology

Panel

Optimal Family Structure

n/a

Eligibility Criteria

Specialist sarcoma 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

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

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

n/a

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