Clinical Indication ID & Name
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
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