Medulloblastoma Group 3/4 - Paediatric - South East Genomics : South East Genomics

Test code

M147.1

Test name

Multi-target NGS panel - small variant (MYCN, EZH2)

Target genes

MYCN, EZH2

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

M147.2

Test name

MYCN seq

Target genes

MYCN

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

M147.3

Test name

EZH2 seq

Target genes

EZH2

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

M147.4

Test name

MYCN copy number FISH

Target genes

MYCN

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

M147.5

Test name

MYC copy number FISH

Target genes

MYC

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

M147.6

Test name

MYC rearrangement FISH

Target genes

MYC

Test scope

Structural variant detection

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

M147.7

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

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

M147.8

Test name

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

Target genes

MYC, 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

M147.9

Test name

Multi-target NGS panel - copy number variant (MYCN, MYC)

Target genes

MYCN, MYC

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

M147.10

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

Order or find a test

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

Medulloblastoma Group 3/4 - Paediatric

Test Group

Specialties

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Optimal Family Structure

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Optimal Family Structure

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Target genes

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Optimal Family Structure

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Target genes

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Optimal Family Structure

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Target genes

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Optimal Family Structure

Eligibility Criteria

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Target genes

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Optimal Family Structure

Eligibility Criteria

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Target genes

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Optimal Family Structure

Eligibility Criteria

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Target genes

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Optimal Family Structure

Eligibility Criteria

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Target genes

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Optimal Family Structure

Eligibility Criteria

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Target genes

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Optimal Family Structure

Eligibility Criteria

Commissioning group

Overlapping idications

Address for samples/request forms

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