Molecular Haematology provides specialised regional, and in some cases national, services related to the diagnosis, classification and management of a spectrum of malignant haematological disorders and inherited gene defects.

MOLECULAR STUDIES:

The DNA diagnostic laboratory focuses on the molecular analysis of a variety of haematological disorders:

1. Molecular and genetic studies of haematological malignancies, including detection of minimal residual disease
2. Prenatal and carrier services for the inherited coagulation and haemoglobin disorders
3. Molecular analysis of prothrombotic risk factors
4. Molecular analysis of haemochromatosis

• SPECIMENS: These include peripheral blood, bone marrow, chorionic villi or amniotic fluid cells. Please see the relevant test information for specimen requirements.

For information on genetic studies not covered by Molecular Haematology see the Diagnostic Genetics page:

Diagnostic Genetics

Download: - Diagnostic Genetics Brochure.pdf

Download: Form - DiagnosticGeneticsRequestForm.pdf

To contact the Molecular Haematology team please call:

Tests Performed:

Inherited Gene Defects:

Coagulation Disorders

Haemophilia A (FVIII) Genetic Testing

Haemophilia B (FIX) Genetic Testing

• Prenatal diagnosis (chorionic villus biopsy and amniotic fluid)
• Carrier detection
• Factor Vll and Factor X deficiencies
• von Willebrand Factor (Type 2N)
• Enquire for testing on other coagulation factors

Inherited Thrombophilias

• Antithrombin III

Factor V Leiden Mutation Analysis (Arg506Gln)

MTHFR Mutation Analysis (C677T)

Prothrombin Variant Mutation Analysis (G20210A)

Disorders of Haemoglobin Synthesis

• Genotypic diagnosis
• Prenatal diagnosis

Alpha Thalassaemia Mutation Analysis

Beta Thalassaemia Mutation Analysis

Haemochromatosis

• HFE (Cys282Tyr)
• HFE (His63Asp)
• HFE (Ser65Cys)

Haemochromatosis

Malignant Haematology:

Clonal Analysis

Immunoglobin Gene Rearrangement Analysis (IgH)

T Cell Receptor Gene Rearrangement Analysis (TCR)

Chromosomal Translocations

AML1-ETO Transcript Detection by PCR - t(8;21)

BCR-ABL Analysis by Quantitative PCR - t(9;22)

BCR-ABL Transcript Detection by PCR - t(9;22)

BCR-ABL Tyrosine Kinase Sequencing - t(9;22)

FIP1L1-PDGFRalpha Transcript Detection by PCR

IgH-Bcl2 Translocation Detection by PCR - t(14;18)

Inv(16) Transcript Detection by PCR

PML-RARalpha Transcript Detection by PCR - t(15;17)

Acquired-Mutation Analysis

Acquired-mutation analysis - Special tests

c-kit Mutation Analysis

FLT3 ITD Allelic Ratio Analysis

FLT3 Mutation Analysis

JAK2 Exon 12 Sequencing

JAK2 V617F Mutation Analysis

NPM1 Mutation Analysis

Transplant Monitoring

Chimerism Studies

T-Cell Separation

Other

Inherited-mutation analysis - Special tests