Order or find a test

Please continue to use the test directory below. The National Genomic Test Directories specify which genomic tests are commissioned by the NHS in England, to be delivered by Genomic Laboratory Hubs.

Synnovis strike action: see news page for more details https://southeastgenomics.nhs.uk/synnovis-industrial-strike-action-16th-dec-20th-dec-inclusive/

Clinical Indication ID & Name

M148

Medulloblastoma TP53 WT - Paediatric

Test Group

Paediatric

Specialties

Test code

M148.1

Test name

Multi-target NGS panel - small variant (YAP1, PTCH1)

Target genes

YAP1, PTCH1

Test scope

Small variant detection

Test method/ technology

Panel

Optimal Family Structure

n/a

Eligibility Criteria

Neuropathologist review indicates that molecular assessment will aid diagnosis or management / Specialist paediatric pathology review indicates that molecular assessment will aid diagnosis or management

Test code

M148.2

Test name

YAP1 seq

Target genes

YAP1

Test scope

Small variant detection

Test method/ technology

Single gene sequencing

Optimal Family Structure

n/a

Eligibility Criteria

Neuropathologist review indicates that molecular assessment will aid diagnosis or management / Specialist paediatric pathology review indicates that molecular assessment will aid diagnosis or management

Test code

M148.3

Test name

PTCH1 seq

Target genes

PTCH1

Test scope

Small variant detection

Test method/ technology

Single gene sequencing

Optimal Family Structure

n/a

Eligibility Criteria

Neuropathologist review indicates that molecular assessment will aid diagnosis or management / Specialist paediatric pathology review indicates that molecular assessment will aid diagnosis or management

Test code

M148.4

Test name

YAP1-C11orf95 FISH/RT-PCR

Target genes

YAP1-C11orf95

Test scope

Structural variant detection

Test method/ technology

FISH/Simple targeted mutation testing

Optimal Family Structure

n/a

Eligibility Criteria

Neuropathologist review indicates that molecular assessment will aid diagnosis or management / Specialist paediatric pathology review indicates that molecular assessment will aid diagnosis or management

Test code

M148.5

Test name

YAP1-TFE3 FISH/RT-PCR

Target genes

YAP1-TFE3

Test scope

Structural variant detection

Test method/ technology

FISH/Simple targeted mutation testing

Optimal Family Structure

n/a

Eligibility Criteria

Neuropathologist review indicates that molecular assessment will aid diagnosis or management / Specialist paediatric pathology review indicates that molecular assessment will aid diagnosis or management

Test code

M148.6

Test name

YAP1 copy number FISH

Target genes

YAP1

Test scope

Copy number variant detection to genomewide resolution

Test method/ technology

FISH

Optimal Family Structure

n/a

Eligibility Criteria

Neuropathologist review indicates that molecular assessment will aid diagnosis or management / Specialist paediatric pathology review indicates that molecular assessment will aid diagnosis or management

Test code

M148.7

Test name

PTCH1 copy number FISH

Target genes

PTCH1

Test scope

Copy number variant detection to genomewide resolution

Test method/ technology

FISH

Optimal Family Structure

n/a

Eligibility Criteria

Neuropathologist review indicates that molecular assessment will aid diagnosis or management / Specialist paediatric pathology review indicates that molecular assessment will aid diagnosis or management

Test code

M148.8

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

Neuropathologist review indicates that molecular assessment will aid diagnosis or management / Specialist paediatric pathology review indicates that molecular assessment will aid diagnosis or management

Test code

M148.9

Test name

Multi-target NGS panel - structural variant (YAP1-C11orf95, YAP1-TFE3, NTRK1, NTRK2, NTRK3)

Target genes

YAP1-C11orf95, YAP1-TFE3, NTRK1, NTRK2, NTRK3

Test scope

Structural variant detection

Test method/ technology

Panel

Optimal Family Structure

n/a

Eligibility Criteria

Neuropathologist review indicates that molecular assessment will aid diagnosis or management / 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

M148.10

Test name

Multi-target NGS panel - copy number variant (YAP1, PTCH1)

Target genes

YAP1, PTCH1

Test scope

Copy number variant detection to exon level resolution

Test method/ technology

Panel

Optimal Family Structure

n/a

Eligibility Criteria

Neuropathologist review indicates that molecular assessment will aid diagnosis or management / Specialist paediatric pathology review indicates that molecular assessment will aid diagnosis or management

Test code

M148.11

Test name

DNA Methylation

Target genes

Methylation status of multiple CpG sites

Test scope

Methylation analysis

Test method/ technology

Methylation array (whole genome)

Optimal Family Structure

n/a

Eligibility Criteria

Neuropathologist review indicates that molecular assessment will aid diagnosis or management / 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

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/

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