Clinical Indication ID & Name
Renal Tumours - Paediatric
Test Group
Paediatric
Specialties
Test code
M165.1
Test name
Multi-target NGS panel - small variant (CTNNB1, DAXX, ATRX)
Target genes
CTNNB1, DAXX, ATRX
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
M165.2
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
M165.3
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
M165.4
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
M165.5
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
M165.6
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
M165.7
Test name
Multi-target NGS panel - structural variant (NTRK1, NTRK2, NTRK3)
Target genes
NTRK1, NTRK2, NTRK3
Test scope
Structural variant detection
Test method/ technology
Panel
Optimal Family Structure
n/a
Eligibility Criteria
Patient’s clinical status means they are eligible for an NTRK inhibitor in the event an NTRK rearrangement is detected
Test code
M165.8
Test name
Multi-target NGS panel - copy number variant (ATRX)
Target genes
ATRX
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
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
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