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.

Acute Lymphoblastic Leukaemia

Clinical Indication ID & Name

M91

Acute Lymphoblastic Leukaemia

Test Group

Haematology

Specialties

Test code

M91.1

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

Both adult and paediatric patients with ALL are eligible for WGS

Test code

M91.2

Test name

Karyotype (To include detection of complex karyotype, hyperdiploidy, high hyperdiploidy, near haploidy, low hypodiploidy, del(1)(p33p33), iAMP21, copy number changes of IKZF1, CDKN2A, CDKN2B, BTG1, EBF1, PAX5, RB1, PAR1 region (CRLF2, CSF2RA, IL3RA) , ETV6 & t(9;22)(q34:q11) BCR-ABL1, t(12;21)(p13;q22) ETV6-RUNX1, t(1;19)(q23;p13) TCF3-PBX1, t(17;19)(q22;p13) TCF3-HLF, t(4;11)(q21;q23) KMT2A-AFF1, t(11;19)(q23;p13.3) KMT2A-MLLT1, t(6;11)(q27;q23) KMT2A-AFDN, t(9;11)(p21;q23) KMT2A-MLLT3, t(10;11)(p12;q23) KMT2A-MLLT10, t(11;19)(q23;p13.1) KMT2A-ELL, t(1;7)(p32;q11) TRB-TAL1, t(11;14)(p15;q11) TRD-LMO1, t(7;11)(p15;p15) NUP98-HOXA13, t(10;14)(q24;q11) TLX1-TRD, t(7;10)(q34;q24) TRB-TLX1, t(5;14)(q35;q32.2) BCL11B-TLX3, rearrangements of TAL1, TLX1, TLX3, PDGFRA, PDGFRB, ABL1, JAK2, KMT2A, ABL2, CSF1R, 14Q32, CRLF2, EPOR)

Target genes

To include detection of complex karyotype, hyperdiploidy, high hyperdiploidy, near haploidy, low hypodiploidy, del(1)(p33p33), iAMP21, copy number changes of IKZF1, CDKN2A, CDKN2B, BTG1, EBF1, PAX5, RB1, PAR1 region (CRLF2, CSF2RA, IL3RA) , ETV6 & t(9;22)(q34:q11) BCR-ABL1, t(12;21)(p13;q22) ETV6-RUNX1, t(1;19)(q23;p13) TCF3-PBX1, t(17;19)(q22;p13) TCF3-HLF, t(4;11)(q21;q23) KMT2A-AFF1, t(11;19)(q23;p13.3) KMT2A-MLLT1, t(6;11)(q27;q23) KMT2A-AFDN, t(9;11)(p21;q23) KMT2A-MLLT3, t(10;11)(p12;q23) KMT2A-MLLT10, t(11;19)(q23;p13.1) KMT2A-ELL, t(1;7)(p32;q11) TRB-TAL1, t(11;14)(p15;q11) TRD-LMO1, t(7;11)(p15;p15) NUP98-HOXA13, t(10;14)(q24;q11) TLX1-TRD, t(7;10)(q34;q24) TRB-TLX1, t(5;14)(q35;q32.2) BCL11B-TLX3, rearrangements of TAL1, TLX1, TLX3, PDGFRA, PDGFRB, ABL1, JAK2, KMT2A, ABL2, CSF1R, 14Q32, CRLF2, EPOR

Test scope

Copy number variant detection to genomewide resolution; Structural variant detection

Test method/ technology

Karyotype or equivalent i.e. SNP array

Optimal Family Structure

n/a

Eligibility Criteria

Molecular assessment will aid diagnosis or management

Test code

M91.4

Test name

FISH copy number and rearrangement other: See tests M91.24-M91.62 for individual specified FISH targets.

Target genes

Other: See tests M91.24-M91.62 for individual specified FISH targets.

Test scope

Copy number variant detection to genomewide resolution; Structural variant detection

Test method/ technology

FISH

Optimal Family Structure

n/a

Eligibility Criteria

Molecular assessment will aid diagnosis or management

Test code

M91.6

Test name

Other RT-PCR: See tests M91-63-M91.77 for individual specified RT-PCR targets

Target genes

Other : See tests M91-63-M91.77 for individual specified RT-PCR targets

Test scope

Structural variant detection

Test method/ technology

RT-PCR

Optimal Family Structure

n/a

Eligibility Criteria

Molecular assessment will aid diagnosis or management

Test code

M91.7

Test name

Multi-target NGS panel - structural variant. To include: BCR-ABL1, t(12;21)(p13;q22) ETV6-RUNX1, t(1;19)(q23;p13) TCF3-PBX1, t(17;19)(q22;p13) TCF3-HLF, t(4;11)(q21;q23) KMT2A-AFF1, t(11;19)(q23;p13.3) KMT2A-MLLT1, t(6;11)(q27;q23) KMT2A-AFDN, t(9;11)(p21;q23) KMT2A-MLLT3, t(10;11)(p12;q23) KMT2A-MLLT10, t(11;19)(q23;p13.1) KMT2A-ELL, t(1;7)(p32;q11) TRB-TAL1, t(11;14)(p15;q11) TRD-LMO1, t(7;11)(p15;p15) NUP98-HOXA13, t(10;14)(q24;q11) TLX1-TRD, t(7;10)(q34;q24) TRB-TLX1, t(5;14)(q35;q32.2) BCL11B-TLX3, rearrangements of TAL1, TLX1, TLX3, PDGFRA, PDGFRB, ABL1, JAK2, KMT2A, ABL2, CSF1R, 14Q32, CRLF2, EPOR)

Target genes

To include: BCR-ABL1, ETV6-RUNX1, TCF3-PBX1, TCF3-HLF, KMT2A-AFF1, KMT2A-MLLT1, KMT2A-AFDN, KMT2A-MLLT3, KMT2A-MLLT10, KMT2A-ELL, TRB-TAL1, TRD-LMO1, NUP98-HOXA13, TLX1-TRD, TRB-TLX1, BCL11B-TLX3, rearrangements of TAL1, TLX1, TLX3, PDGFRA, PDGFRB, ABL1, JAK2, KMT2A, ABL2, CSF1R, 14Q32, CRLF2, EPOR)

Test scope

Structural variant detection

Test method/ technology

Panel

Optimal Family Structure

n/a

Eligibility Criteria

Molecular assessment will aid diagnosis or management

Test code

M91.8

Test name

BCR-ABL1 multiplex

Target genes

BCR-ABL1

Test scope

Structural variant detection

Test method/ technology

Simple targeted mutation testing

Optimal Family Structure

n/a

Eligibility Criteria

Molecular assessment will aid diagnosis or management

Test code

M91.9

Test name

MRD BCR-ABL1 RT-qPCR

Target genes

BCR-ABL1 p190 & BCR-ABL1 p210

Test scope

Structural variant detection

Test method/ technology

QF-PCR or equivalent

Optimal Family Structure

n/a

Eligibility Criteria

Molecular assessment will aid diagnosis or management

Test code

M91.10

Test name

BCR-ABL1 FISH

Target genes

BCR-ABL1

Test scope

Structural variant detection

Test method/ technology

FISH

Optimal Family Structure

n/a

Eligibility Criteria

Molecular assessment will aid diagnosis or management

Test code

M91.11

Test name

BCR-ABL1 TKD NGS

Target genes

BCR-ABL1

Test scope

Small variant detection

Test method/ technology

Panel

Optimal Family Structure

n/a

Eligibility Criteria

Known ALL with BCR-ABL1 translocation, clinically thought to have BCR-ABL1 TKD mutations

Test code

M91.13

Test name

BCR-ABL1 T315I seq

Target genes

BCR-ABL1

Test scope

Small variant detection

Test method/ technology

Simple targeted mutation testing

Optimal Family Structure

n/a

Eligibility Criteria

Known ALL with BCR-ABL1 translocation, clinically thought to have BCR-ABL1 TKD mutations

Test code

M91.14

Test name

MRD ALL RT-qPCR

Target genes

Can include detection t(9;22)(q34:q11) BCR-ABL1, t(12;21)(p13;q22) ETV6-RUNX1, t(1;19)(q23;p13) TCF3-PBX1, t(17;19)(q22;p13) TCF3-HLF, t(4;11)(q21;q23) KMT2A-AFF1, t(11;19)(q23;p13.3) KMT2A-MLLT1, t(6;11)(q27;q23) KMT2A-AFDN, t(9;11)(p21;q23) KMT2A-MLLT3,

Test scope

Structural variant detection

Test method/ technology

QF-PCR or equivalent

Optimal Family Structure

n/a

Eligibility Criteria

ALL with known translocation which can be detected with sufficient sensitivity using a PCR-based technique that it can be used for MRD monitoring

Test code

M91.15

Test name

Multi-target NGS panel - small variant (ETV6, NOTCH1, FBXW7, TP53, PTEN, KRAS, NRAS, HRAS, IKZF1)

Target genes

ETV6, NOTCH1, FBXW7, TP53, PTEN, KRAS, NRAS, HRAS, IKZF1

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

M91.22

Test name

MRD target identification (Ig/TCR gene rearrangement by PCR & sequencing with MRD workup via QF-PCR)

Target genes

IGH, IGK, IGL, (TRA), TRB, TRG, TCRD

Test scope

Complex variant detection

Test method/ technology

Multiple

Optimal Family Structure

n/a

Eligibility Criteria

Molecular assessment will aid diagnosis or management

Test code

M91.23

Test name

MRD quantification (Ig/TCR gene rearrangement MRD QF-PCR )

Target genes

IGH, IGK, IGL, (TRA), TRB, TRG, TCRD

Test scope

Complex variant detection

Test method/ technology

Complex targeted mutation testing

Optimal Family Structure

n/a

Eligibility Criteria

Molecular assessment will aid diagnosis or management

Test code

M91.24

Test name

Global copy number change FISH (i.e. hyperdiploidy, high hyperdiploidy, near haploidy, low hypodiploidy)

Target genes

Multiple chromosomes

Test scope

Copy number variant detection to genomewide resolution

Test method/ technology

FISH

Optimal Family Structure

n/a

Eligibility Criteria

Molecular assessment will aid diagnosis or management

Test code

M91.25

Test name

del(1)(p33p33) FISH

Target genes

TAL1

Test scope

Copy number variant detection to genomewide resolution

Test method/ technology

FISH

Optimal Family Structure

n/a

Eligibility Criteria

Molecular assessment will aid diagnosis or management

Test code

M91.26

Test name

iAMP21 FISH

Target genes

RUNX1

Test scope

Copy number variant detection to genomewide resolution

Test method/ technology

FISH

Optimal Family Structure

n/a

Eligibility Criteria

Molecular assessment will aid diagnosis or management

Test code

M91.36

Test name

t(12;21)(p13;q22) ETV6-RUNX1 FISH

Target genes

ETV6-RUNX1

Test scope

Structural variant detection

Test method/ technology

FISH

Optimal Family Structure

n/a

Eligibility Criteria

Molecular assessment will aid diagnosis or management

Test code

M91.37

Test name

t(1;19)(q23;p13) TCF3-PBX1 FISH

Target genes

TCF3-PBX1

Test scope

Structural variant detection

Test method/ technology

FISH

Optimal Family Structure

n/a

Eligibility Criteria

Molecular assessment will aid diagnosis or management

Test code

M91.38

Test name

t(17;19)(q22;p13) TCF3-HLF FISH

Target genes

TCF3-HLF

Test scope

Structural variant detection

Test method/ technology

FISH

Optimal Family Structure

n/a

Eligibility Criteria

Molecular assessment will aid diagnosis or management

Test code

M91.39

Test name

t(4;11)(q21;q23) KMT2A-AFF1 FISH

Target genes

KMT2A-AFF1

Test scope

Structural variant detection

Test method/ technology

FISH

Optimal Family Structure

n/a

Eligibility Criteria

Molecular assessment will aid diagnosis or management

Test code

M91.40

Test name

t(11;19)(q23;p13.3) KMT2A-MLLT1 FISH

Target genes

KMT2A-MLLT1

Test scope

Structural variant detection

Test method/ technology

FISH

Optimal Family Structure

n/a

Eligibility Criteria

Molecular assessment will aid diagnosis or management

Test code

M91.41

Test name

t(6;11)(q27;q23) KMT2A-AFDN FISH

Target genes

KMT2A-AFDN

Test scope

Structural variant detection

Test method/ technology

FISH

Optimal Family Structure

n/a

Eligibility Criteria

Molecular assessment will aid diagnosis or management

Test code

M91.42

Test name

t(9;11)(p21;q23) KMT2A-MLLT3 FISH

Target genes

KMT2A-MLLT3

Test scope

Structural variant detection

Test method/ technology

FISH

Optimal Family Structure

n/a

Eligibility Criteria

Molecular assessment will aid diagnosis or management

Test code

M91.43

Test name

t(10;11)(p12;q23) KMT2A-MLLT10 FISH

Target genes

KMT2A-MLLT10

Test scope

Structural variant detection

Test method/ technology

FISH

Optimal Family Structure

n/a

Eligibility Criteria

Molecular assessment will aid diagnosis or management

Test code

M91.44

Test name

t(11;19)(q23;p13.1) KMT2A-ELL FISH

Target genes

KMT2A-ELL

Test scope

Structural variant detection

Test method/ technology

FISH

Optimal Family Structure

n/a

Eligibility Criteria

Molecular assessment will aid diagnosis or management

Test code

M91.45

Test name

t(1;7)(p32;q11) TRB-TAL1 FISH

Target genes

TRB-TAL1

Test scope

Structural variant detection

Test method/ technology

FISH

Optimal Family Structure

n/a

Eligibility Criteria

Molecular assessment will aid diagnosis or management

Test code

M91.46

Test name

t(11;14)(p15;q11) TRD-LMO1 FISH

Target genes

TRD-LMO1

Test scope

Structural variant detection

Test method/ technology

FISH

Optimal Family Structure

n/a

Eligibility Criteria

Molecular assessment will aid diagnosis or management

Test code

M91.47

Test name

t(7;11)(p15;p15) NUP98-HOXA13 FISH

Target genes

NUP98-HOXA13

Test scope

Structural variant detection

Test method/ technology

FISH

Optimal Family Structure

n/a

Eligibility Criteria

Molecular assessment will aid diagnosis or management

Test code

M91.48

Test name

t(10;14)(q24;q11) TLX1-TRD FISH

Target genes

TLX1-TRD

Test scope

Structural variant detection

Test method/ technology

FISH

Optimal Family Structure

n/a

Eligibility Criteria

Molecular assessment will aid diagnosis or management

Test code

M91.49

Test name

t(7;10)(q34;q24) TRB-TLX1 FISH

Target genes

TRB-TLX1

Test scope

Structural variant detection

Test method/ technology

FISH

Optimal Family Structure

n/a

Eligibility Criteria

Molecular assessment will aid diagnosis or management

Test code

M91.50

Test name

t(5;14)(q35;q32.2) BCL11B-TLX3 FISH

Target genes

BCL11B-TLX3

Test scope

Structural variant detection

Test method/ technology

FISH

Optimal Family Structure

n/a

Eligibility Criteria

Molecular assessment will aid diagnosis or management

Test code

M91.51

Test name

TAL1 rearrangement FISH (other than TRB-TAL1 see M91.45)

Target genes

TAL1

Test scope

Structural variant detection

Test method/ technology

FISH

Optimal Family Structure

n/a

Eligibility Criteria

Molecular assessment will aid diagnosis or management

Test code

M91.52

Test name

TLX1 rearrangement FISH (other than TLX1-TRD & TRB-TLX1 see M91.48 & M91.49)

Target genes

TLX1

Test scope

Structural variant detection

Test method/ technology

FISH

Optimal Family Structure

n/a

Eligibility Criteria

Molecular assessment will aid diagnosis or management

Test code

M91.54

Test name

PDGFRB rearrangement FISH

Target genes

PDGFRB

Test scope

Structural variant detection

Test method/ technology

FISH

Optimal Family Structure

n/a

Eligibility Criteria

Molecular assessment will aid diagnosis or management

Test code

M91.54

Test name

PDGFRB rearrangement FISH

Target genes

PDGFRB

Test scope

Structural variant detection

Test method/ technology

FISH

Optimal Family Structure

n/a

Eligibility Criteria

Molecular assessment will aid diagnosis or management

Test code

M91.55

Test name

ABL1 rearrangement FISH (other than BCR-ABL1 see M91.10)

Target genes

ABL1

Test scope

Structural variant detection

Test method/ technology

FISH

Optimal Family Structure

n/a

Eligibility Criteria

Molecular assessment will aid diagnosis or management

Test code

M91.56

Test name

JAK2 rearrangement FISH

Target genes

JAK2

Test scope

Structural variant detection

Test method/ technology

FISH

Optimal Family Structure

n/a

Eligibility Criteria

Molecular assessment will aid diagnosis or management

Test code

M91.57

Test name

KMT2A rearrangement FISH (other than specific rearrangements described in tests M91.30-91,44)

Target genes

KMT2A

Test scope

Structural variant detection

Test method/ technology

FISH

Optimal Family Structure

n/a

Eligibility Criteria

Molecular assessment will aid diagnosis or management

Test code

M91.58

Test name

ABL2 rearrangement FISH

Target genes

ABL2

Test scope

Structural variant detection

Test method/ technology

FISH

Optimal Family Structure

n/a

Eligibility Criteria

Molecular assessment will aid diagnosis or management

Test code

M91.59

Test name

CSF1R rearrangement FISH

Target genes

CSF1R

Test scope

Structural variant detection

Test method/ technology

FISH

Optimal Family Structure

n/a

Eligibility Criteria

Molecular assessment will aid diagnosis or management

Test code

M91.60

Test name

14q32(IGH) rearrangement FISH

Target genes

IGH

Test scope

Structural variant detection

Test method/ technology

FISH

Optimal Family Structure

n/a

Eligibility Criteria

Molecular assessment will aid diagnosis or management

Test code

M91.61

Test name

CRLF2 rearrangement FISH

Target genes

CRLF2

Test scope

Structural variant detection

Test method/ technology

FISH

Optimal Family Structure

n/a

Eligibility Criteria

Molecular assessment will aid diagnosis or management

Test code

M91.62

Test name

EPOR rearrangement FISH

Target genes

EPOR

Test scope

Structural variant detection

Test method/ technology

FISH

Optimal Family Structure

n/a

Eligibility Criteria

Molecular assessment will aid diagnosis or management

Test code

M91.63

Test name

t(12;21)(p13;q22) ETV6-RUNX1 RT-PCR

Target genes

ETV6-RUNX1

Test scope

Structural variant detection

Test method/ technology

RT-PCR

Optimal Family Structure

n/a

Eligibility Criteria

Molecular assessment will aid diagnosis or management

Test code

M91.64

Test name

t(1;19)(q23;p13) TCF3-PBX1 RT-PCR

Target genes

TCF3-PBX1

Test scope

Structural variant detection

Test method/ technology

RT-PCR

Optimal Family Structure

n/a

Eligibility Criteria

Molecular assessment will aid diagnosis or management

Test code

M91.65

Test name

t(17;19)(q22;p13) TCF3-HLF RT-PCR

Target genes

TCF3-HLF

Test scope

Structural variant detection

Test method/ technology

RT-PCR

Optimal Family Structure

n/a

Eligibility Criteria

Molecular assessment will aid diagnosis or management

Test code

M91.66

Test name

t(4;11)(q21;q23) KMT2A-AFF1 RT-PCR

Target genes

KMT2A-AFF1

Test scope

Structural variant detection

Test method/ technology

RT-PCR

Optimal Family Structure

n/a

Eligibility Criteria

Molecular assessment will aid diagnosis or management

Test code

M91.67

Test name

t(11;19)(q23;p13.3) KMT2A-MLLT1 RT-PCR

Target genes

KMT2A-MLLT1

Test scope

Structural variant detection

Test method/ technology

RT-PCR

Optimal Family Structure

n/a

Eligibility Criteria

Molecular assessment will aid diagnosis or management

Test code

M91.68

Test name

t(6;11)(q27;q23) KMT2A-AFDN RT-PCR

Target genes

KMT2A-AFDN

Test scope

Structural variant detection

Test method/ technology

RT-PCR

Optimal Family Structure

n/a

Eligibility Criteria

Molecular assessment will aid diagnosis or management

Test code

M91.69

Test name

t(9;11)(p21;q23) KMT2A-MLLT3 RT-PCR

Target genes

KMT2A-MLLT3

Test scope

Structural variant detection

Test method/ technology

RT-PCR

Optimal Family Structure

n/a

Eligibility Criteria

Molecular assessment will aid diagnosis or management

Test code

M91.70

Test name

t(10;11)(p12;q23) KMT2A-MLLT10 RT-PCR

Target genes

KMT2A-MLLT10

Test scope

Structural variant detection

Test method/ technology

RT-PCR

Optimal Family Structure

n/a

Eligibility Criteria

Molecular assessment will aid diagnosis or management

Test code

M91.71

Test name

t(11;19)(q23;p13.1) KMT2A-ELL RT-PCR

Target genes

KMT2A-ELL

Test scope

Structural variant detection

Test method/ technology

RT-PCR

Optimal Family Structure

n/a

Eligibility Criteria

Molecular assessment will aid diagnosis or management

Test code

M91.72

Test name

t(1;7)(p32;q11) TRB-TAL1 RT-PCR

Target genes

TRB-TAL1

Test scope

Structural variant detection

Test method/ technology

RT-PCR

Optimal Family Structure

n/a

Eligibility Criteria

Molecular assessment will aid diagnosis or management

Test code

M91.73

Test name

t(11;14)(p15;q11) TRD-LMO1 RT-PCR

Target genes

TRB-TAL1

Test scope

Structural variant detection

Test method/ technology

RT-PCR

Optimal Family Structure

n/a

Eligibility Criteria

Molecular assessment will aid diagnosis or management

Test code

M91.74

Test name

t(7;11)(p15;p15) NUP98-HOXA13 RT-PCR

Target genes

NUP98-HOXA13

Test scope

Structural variant detection

Test method/ technology

RT-PCR

Optimal Family Structure

n/a

Eligibility Criteria

Molecular assessment will aid diagnosis or management

Test code

M91.75

Test name

t(10;14)(q24;q11) TLX1-TRD RT-PCR

Target genes

TLX1-TRD

Test scope

Structural variant detection

Test method/ technology

RT-PCR

Optimal Family Structure

n/a

Eligibility Criteria

Molecular assessment will aid diagnosis or management

Test code

M91.76

Test name

t(7;10)q34;q24) TRB-TLX1 RT-PCR

Target genes

TRB-TLX1

Test scope

Structural variant detection

Test method/ technology

RT-PCR

Optimal Family Structure

n/a

Eligibility Criteria

Molecular assessment will aid diagnosis or management

Test code

M91.77

Test name

t(5;14)(q35;q32.2) BCL11B-TLX3 RT-PCR

Target genes

BCL11B-TLX3

Test scope

Structural variant detection

Test method/ technology

RT-PCR

Optimal Family Structure

n/a

Eligibility Criteria

Molecular assessment will aid diagnosis or management

Test code

M91.78

Test name

Multi-target NGS panel - copy number variant (to include hyperdiploidy, high hyperdiploidy, near haploidy, low hypodiploidy, del(1)(p33p33), iAMP21, copy number changes of IKZF1, CDKN2A, CDKN2B, BTG1, EBF1, PAX5, RB1, PAR1 region (CRLF2, CSF2RA, IL3RA) , ETV6)

Target genes

To include hyperdiploidy, high hyperdiploidy, near haploidy, low hypodiploidy, Chr1p33, Chr21, copy number changes of IKZF1, CDKN2A, CDKN2B, BTG1, EBF1, PAX5, RB1, PAR1 region (CRLF2, CSF2RA, IL3RA) , ETV6

Test scope

Copy number variant detection to genomewide resolution

Test method/ technology

Panel

Optimal Family Structure

n/a

Eligibility Criteria

Molecular assessment will aid diagnosis or management

Test code

M91.79

Test name

MRD BCR-ABL1 RT-qPCR rare

Target genes

BCR-ABL1 non-p190 & non-p210 transcripts

Test scope

Structural variant detection

Test method/ technology

QF-PCR or equivalent

Optimal Family Structure

n/a

Eligibility Criteria

Molecular assessment will aid diagnosis or management

Test code

M91.80

Test name

TPMT

Target genes

TPMT

Test scope

Single Nucleotide Polymorphism/Small variant detection

Test method/ technology

Simple targeted mutation testing

Optimal Family Structure

n/a

Eligibility Criteria

Patient with a confirmed diagnosis of acute lymphoblastic leukaemia and proposed treatment involving purine analogue based drugs

Test code

M91.81

Test name

NUDT15

Target genes

NUDT15

Test scope

Single Nucleotide Polymorphism/Small variant detection

Test method/ technology

Simple targeted mutation testing

Optimal Family Structure

n/a

Eligibility Criteria

Patient with a confirmed diagnosis of acute lymphoblastic leukaemia and proposed treatment involving purine analogue based drugs

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

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