Clinical Indication ID & Name
Paediatric Tumours
Test Group
Paediatric
Specialties
Test code
M119.1
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
All malignant tumours diagnosed in paediatric patients other than some subtypes of sarcoma specifically excluded on the sarcoma testing sheet
Test code
M119.2
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
M119.4
Test name
DPYD hotspot
Target genes
DPYD
Test scope
Small variant detection
Test method/ technology
Simple targeted mutation testing
Optimal Family Structure
n/a
Eligibility Criteria
Patient planned to receive fluoropyrimidine treatment
Test code
M119.5
Test name
Multi-target NGS-small variant (ABL1, ACVR1, AKT1, ALK, AMER1, APC, ARID1A, ARID1B, ASXL1, ATM, ATR, ATRX, BARD1, BBC3, BCOR, BRAF, BRCA1, BRCA2, BRIP1, CCND1, CCND2, CCNE1, CDK12, CDK4, CDK6, CDKN1A, CDKN2A, CDKN2B, CHEK1, CHEK2, CIC, CREBBP, CTNNB1, DAXX, DDX3X, DICER1, DROSHA, EGFR, EMSY, EPHB2, ERBB2, EZH2, FANCI, FANCL, FBXW7, FGFR1, FGFR2, FGFR3, FGFR4, GPR161, H3F3A, HIST1H3B, HIST1H3C, HIST2H3C, HRAS, IDH1, IDH2, IGF1R, KIAA1549 (CNV), KIT, KMT2A, KRAS, LIN28B, MAP2K1, MAP2K2, MAPK1, MDM2, MDM4, MET, MLH1, MRE11A, MSH2, MSH6, MYC, MYCL, MYCN, MYOD1, NF1, NF2, NRAS, PALB2, PDGFRA, PHOX2B, PIK3CA, PIK3R1, PIN1, PMS1, PMS2, PPM1D, PPP2R2A, PRKAR1A, PTCH1, PTCH2, PTEN, PTPN11, RAD51B, RAD51C, RAD51D, RAD54L, RAF1, RB1, RET, SETD2, SMARCA4, SMARCB1, SMARCE1, SMO, SUFU, TERT, TFE3, TP53, TSC1, TSC2, VHL, WT1, YAP1, YWHAE (CNV))
Target genes
ABL1, ACVR1, AKT1, ALK, AMER1, APC, ARID1A, ARID1B, ASXL1, ATM, ATR, ATRX, BARD1, BBC3, BCOR, BRAF, BRCA1, BRCA2, BRIP1, CCND1, CCND2, CCNE1, CDK12, CDK4, CDK6, CDKN1A, CDKN2A, CDKN2B, CHEK1, CHEK2, CIC, CREBBP, CTNNB1, DAXX, DDX3X, DICER1, DROSHA, EGFR, EMSY, EPHB2, ERBB2, EZH2, FANCI, FANCL, FBXW7, FGFR1, FGFR2, FGFR3, FGFR4, GPR161, H3F3A, HIST1H3B, HIST1H3C, HIST2H3C, HRAS, IDH1, IDH2, IGF1R, KIAA1549 (CNV), KIT, KMT2A, KRAS, LIN28B, MAP2K1, MAP2K2, MAPK1, MDM2, MDM4, MET, MLH1, MRE11A, MSH2, MSH6, MYC, MYCL, MYCN, MYOD1, NF1, NF2, NRAS, PALB2, PDGFRA, PHOX2B, PIK3CA, PIK3R1, PIN1, PMS1, PMS2, PPM1D, PPP2R2A, PRKAR1A, PTCH1, PTCH2, PTEN, PTPN11, RAD51B, RAD51C, RAD51D, RAD54L, RAF1, RB1, RET, SETD2, SMARCA4, SMARCB1, SMARCE1, SMO, SUFU, TERT, TFE3, TP53, TSC1, TSC2, VHL, WT1, YAP1, YWHAE (CNV)
Test scope
Small variant detection/Copy number variant detection to exon level
Test method/ technology
Panel
Optimal Family Structure
n/a
Eligibility Criteria
All malignant tumours diagnosed in paediatric patients other than some subtypes of sarcoma specifically excluded on the sarcoma testing sheet. Specialist paediatric pathology review indicates that molecular assessment will aid management in relapsed setting.
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