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
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