Molecular Diagnostic Services

Molecular Tests Performed

Clinical Indication

NGTD code

Genomic Test

Target TAT

Myeloproliferative Neoplasms (MPN)

M85.14

JAK2 V617F hotspot

14

 

M85.16

CALR exon 9 hotspot

14

 

M85.11

Diagnostic BCR::ABL1

14

Acute Myeloid Leukaemia (AML)

M80.18/M80.21

FLT3 ITD/TKD hotspot

3

 

M80.22

NPM1 exon 12 hotspot

3

 

M80.42

RUNX1::RUNX1T1 RT-qPCR

14

 

M80.43

CBFB::MYH11 RT-qPCR

14

 

M80.23

IDH1 mutation hotspot

14

 

M80.24

IDH2 mutation hotspot

14

 

M80.10

PML::RARA RT-qPCR

3

Acute Lymphoblastic Leukaemia (ALL)

M91.8

 Diagnostic BCR::ABL1

3

Chronic Myeloid Leukaemia (CML): Diagnostic

M84.1

 Diagnostic BCR::ABL1

14

Chronic Myeloid Leukaemia (CML): Monitoring (MRD)

M84.2

 MRD BCR::ABL (p210 only)

14

Monitoring of haematopoietic stem cell transplant (STR)

M118.1

Chimerism

 

14

Solid Tumour

M1.1

Colorectal Cancer DNA

21

 

M1.6

Colorectal Cancer RNA

 

M4.1/M4.3

Non-Small Cell Lung Cancer DNA

21

 

M4.2

Non-Small Cell Lung Cancer RNA

 

M7.1

Melanoma DNA

21

 

M7.3

Melanoma RNA

 

M8.1

Gastroinstetinal Stromal Tumour DNA

21

 

M8.2

Gastroinstetinal Stromal Tumour RNA

 

M9.1/M10.1+others

Thyroid Cancer DNA

21

 

M9.2/M10.2+others

Thyroid Cancer RNA

 

M220.1

Cholangiocarcinoma RNA

21

 

M220.6

Cholangiocarcinoma DNA

NGTD-National Genomic Test Directory

 

Tests specified within the genomics test directory that are not provided by this laboratory, are sent to Cambridge University Hospitals or, in some occasions, referred to specialist genetic laboratories outside of our GLH, please see the table below for details:

 

Molecular Tests Referred to other Laboratories

 

Tests

Referral Clinical Indication

NGTD code

Referral laboratory

AML baseline for MRD

M80.9 M80.10 M80.11 M80.12 M80.13

Guy’s Hospital or Bristol Hospital

BCR::ABL1 p190 MRD

M84.2

Hammersmith

BCR::ABL1 p210 transcript identification

M84.1

Addenbrookes, Cambridge

BCR::ABL1 p210 rare transcript identification and MRD

M84.23

Hammersmith

BCR::ABL TKD mutation screen

M84.8

King’s College Hospital

JAK2 exon 12

M85.15

Addenbrooke’s, Cambridge

MPL exon 10

M85.17

Addenbrooke’s, Cambridge

cKIT

M86.1
M86.2

Addenbrooke’s, Cambridge

Lineage specific chimerism

M118.1

Forward EDTA to relevant monitoring laboratory

Myeloid NGS

M80.2

Addenbrooke’s, Cambridge

 

Page last updated 19/06/2024. Please note that if printed, information is only valid on the day of printing.