Molecular haematology test menu

Disease category

Molecular genetic target

Corresponding translocation (where present)

Myeloproliferative neoplasm

BCR-ABL1

JAK2 V617F mutation

JAK2 exon 12 mutation

CALR exon 9 mutation

MPL exon 10 mutation

KIT D816V mutation

FIP1L1-PDGFRA

BCR-ABL1 E13A2/E14A2 transcript quantification (CML monitoring)

t(9;22)

 

 

 

 

 

del(4)(q12) cryptic

Acute leukaemia

FLT3 internal tandem duplication (ITD)

FLT3 tyrosine kinase domain mutation (codons 835/836)

NPM1 exon 12 mutation

CEBPA mutation

RUNX1-RUNX1T1 * (AML1-ETO)

CBFB-MYH11 *

PML-RARA *

BCR-ABL1 *

E2A-PBX1 *

ETV6-RUNX1 * (TEL-AML1)

MLL fusion transcripts (MLL-AFF1(AF4); MLL-MLLT4 (AF6); MLL-MLLT3 (AF9); MLL-MLLT10 (AF10); MLL-ELL; MLL-MLLT1 (ENL))

 

 

 

 

 

t(8;21)

t(16;16)’ inv(16)

t(15;17)

t(9;22)

t(1;19)

t(12;21)

t(v;11)

Mature lymphoid neoplasm

TCR gene rearrangement (TCRD, TCRG and TCRB)

IG gene rearrangement (IGH, IGK and IGL)

BCL1-IGH

BCL2-IGH

NPM-ALK

BRAF V600E mutation

TP53 mutation analysis (on specific request)

IGVH mutation status (on specific request – samples sent to Leeds HMDS)

 

 

 

t(11;14)

t(14;18)

t(2;5)

 

 

CML follow up

E13A2/E14A2 (P210) BCR-ABL1 quantification

ABL tyrosine kinase (TK) domain mutation screening

t(9;22)

Post bone marrow/stem cell transplant monitoring

Post bone marrow/stem cell transplant monitoring

B cell chimerism analysis upon specific request

 

* Nested PCR can be performed to increase sensitivity for the detection of minimal residual disease.