Request / Find a Test Tool

The National Genomic Test Directories specify which genomic tests are commissioned by the NHS in England, to be delivered by Genomic Laboratory Hubs.

This tool allows clinical teams to search all of the genomic tests available to patients through the National Testing Directory. From here you can find out more details about each test and information about how to order them. These tests can only be ordered by clinical teams, if you are a patient looking to request a test please speak to your clinical team directly.

Paediatric Tumours

Clinical Indication ID & Name

M119

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

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