Clinical Indication ID & Name
Testicular - Paediatric
Test Group
Paediatric
Specialties
Test code
M88.1
Test name
Multi-target NGS panel - small variant (PTPN11, KRAS, NRAS, NF1, CBL)
Target genes
PTPN11, KRAS, NRAS, NF1, CBL
Test scope
Small variant detection
Test method/ technology
Panel
Optimal Family Structure
n/a
Eligibility Criteria
If not undergoing WGS as a paediatric tumour
Test code
M88.2
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
For paediatric patients only
Test code
M88.3
Test name
Multi-target NGS panel - small variant (KRAS, NRAS, TP53, JAK2, CALR, MPL, ASXL1, CBL, CSF3R, CUX1, DNMT3A, EZH2, IDH1, IDH2, IKZF1, KIT, NFE2, SF3B1, SH2B3, SRSF2, TET2, U2AF1, HRAS, RUNX1, SETBP1, ZRSR2, BCOR, PTPN11,FLT3, NF1 & NPM1)
Target genes
KRAS, NRAS, TP53, JAK2, CALR, MPL, ASXL1, CBL, CSF3R, CUX1, DNMT3A, EZH2, IDH1, IDH2, IKZF1, KIT, NFE2, SF3B1, SH2B3, SRSF2, TET2, U2AF1, HRAS, RUNX1, SETBP1, ZRSR2, BCOR, PTPN11,FLT3, NF1 & NPM1
Test scope
Small variant detection
Test method/ technology
Panel
Optimal Family Structure
n/a
Eligibility Criteria
Molecular assessment will aid diagnosis or management
Test code
M88.4
Test name
Karyotype
Target genes
Genomewide
Test scope
Copy number variant detection to genomewide resolution by Karyotype or equivalent
Test method/ technology
Karyotype or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
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
Cancer WGS Clinician pack
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