Home Page

Contact: Dr Joanna Farrugia, Principal Clinical Scientist Tel. 01752 430888 (Internal Ext. 30888 )

Our service: The Molecular Biology service offers a range of tests useful in the diagnosis, prognosis and treatment stratification for patients with a range of genomic mutations. Germ line mutations in heritable thrombophilia (factor V Leiden and factor II prothrombin) and hereditary haemochromatosis (HFE genotyping) are available for both diagnosis of new patients and in the context of predictive testing within affected families. Please note that a family history is useful if available. Our service also includes analysis of somatic mutations in genes important in haematological malignancies, such as myeloproliferative neoplasms, leukaemia and lymphoma and also in Neuropathology and Oncology where certain mutations are used to direct treatment decisions. Some tests are referred out to other centres, in discussion with the Principal Clinical Scientist.

Please note that samples and extracted DNA can be stored by the laboratory for potential molecular analysis and for clinical trials, contact the laboratory for details.

Samples: Any fluid or tissue containing nucleated cells may be analysed and must be provided in a sterile container. Blood or bone marrow must be provided anticoagulated with either EDTA or citrate. Bone marrow trephine FFPE must be decalcified with EDTA. Please send 1xblood tubes for routine testing of inherited mutations (in addition to any other request) and 2x blood tubes for malignancy testing. Samples for RNA-based analysis MUST be received by the laboratory within 72 hours as RNA is very fragile and liable to degrade quickly. The table below shows tests available and those that use RNA for analysis.

Any remainder sample may be stored for potential use in patient monitoring for residual disease and may also be used as controls in further tests. All storage is in accordance with HTA guidelines. Patients may refuse consent for use of their samples using the appropriate UHPNT documentation.

Advice: The appropriateness of samples and their sending can be discussed with the laboratory. For more clinical advice and interpretation of results, please contact the Principal Clinical Scientist.

Tests
DNA-based tests	RNA-based tests	Referred tests
F5 c.1691G>A (Leiden) and F2 c.20210G>A inherited thrombophilia	t(9;22) qualitative BCR/ABL1 in CML, ALL and AML	Chimerism for post-stem cell transplantation
HFE gene mutations p.Cys282Tyr (C282Y) and p.His63Asp (H63D) in hereditary haemochromatosis	t(9;22) quantitative monitoring BCR/ABL1 in CML, ALL and AML	MYD88 gene mutations in Waldenstrom’s Macroglobulinaemia
t(11;14) translocation in Mantle Cell Lymphoma	Cyclin D1 over expression in Mantle Cell Lymphoma	c-KIT gene mutation in Systemic Mastocytosis
t(14;18) translocation in Follicular Lymphoma	t(8;21) translocation in AML	CBFBA/B gene mutations in AML
FLT3-ITD gene mutations in AML	t(15;17) translocation in AML	FIP1L1/PDGFRA gene fusion in Hypereosinophillia
Nucleophosmin (NPM1) gene mutations in AML	inv(16) translocation in AML	CSF3R gene mutation in CNL
T cell clonality using TCR gamma gene rearrangements	T cell clonality using TCR beta gene rearrangements	JAK2 exon 12 gene mutation in polycythaemia
B cell clonality using IGH gene rearrangements
JAK2 exon 14 p.Val617Phe (V617F) in MPD
Calreticulin (CALR) exon 9 mutation in ET or myelofibrosis
MPL exon 10 mutation in ET or myelofibrosis
MGMT promoter methylation in glioblastoma
Loss of heterozygosity at chromosomes 1p & 19q in gliomas
EGFR gene mutations in NSCLC

Reviewed December 2023
This page will be updated June 2024