Directory of Molecular Diagnostic Services
For Inherited Bleeding Disorders

This list provides the molecular diagnostic services provided around the UK. You may select a centre from the list to discover the various services they provide.

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Belfast's services & description
Haemophilia A	F8 gene intron 22 inversion (long PCR) F8 gene intron 1 inversion (PCR) Detection of known F8 gene mutation (PCR & sequencing) Full F8 gene mutation screening (PCR & sequencing) Carrier and prenatal diagnosis
Haemophilia B	Detection of known F9 gene mutation (PCR & sequencing) Full F9 gene mutation screening (PCR & Sequencing) Carrier and prenatal diagnosis
VWD	Mutation screening in VWD: VWF gene exon 28 in types 2A, 2B and 2M VWD
Other Disorders	Mutation screening in dysfibrinogenaemia Mutation screening in rare coagulation disorders (FXI, FVII, FX) Mutation screening in antithrombin deficiency (SERPINC1) Mutation screening in Bernard-Soulier Syndrome
Contact	Email: Dr Paul Winter Other Contact Details:

Birmingham
Haemophilia A	F8 gene intron 22 inversion (long PCR) F8 gene intron 1 inversion (PCR) Full F8 gene mutation screening by direct DNA sequencing for carrier and prenatal diagnosis
Haemophilia B	Detection of known F9 gene mutation (PCR & sequencing) Full F9 gene mutation screening by direct DNA sequencing for carrier and prenatal diagnosis
VWD	Type 1 & 3 VWD: Gene linkage analysis of common polymorphisms & intron 40 VNTRs Full VWF gene mutation screening by direct DNA sequencing Mutation detection for type 2A, 2B, 2M & 2N VWD
Other Disorders	Mutation detection for FVII, FX, FXI & Protein C deficiencies Platelet disorders: Bernard-Soulier Syndrome, Glanzmann Thrombasthenia & Pseudo-VWD
Contact	Email: Dr Bimal Theophilus / Dr Andrea Guilliatt Other Contact Details:

Cambridge
VWD	Full VWF gene mutation screening (PCR & direct sequencing of exons 2-52)
Other Disorders	Factor VII deficiency by direct sequencing (F7) Factor X deficiency by direct sequencing (F10) Factor XI deficiency by direct sequencing (F11) Factor XIII deficiency by direct sequencing (F13A1) Platelet type pseudo VWD (GP1BA gene) - screening for 3 reported point mutations (Gly233Ser, Gly233Val, Met239Val) by direct sequencing Antithrombin deficiency by direct sequencing (SERPINC1)
Contact	Email: Carolyn Cooper - Clinical Scientist Email: Namir al Hasso - Clinical Scientist Email: Becky Treacy - Clinical Scientist Tel: 01223 348 866 Fax: 01223 348 870 Address: Clinical Scientist Molecular Genetics Box 158 Level 6 Addenbrooke's Treatment Centre Cambridge University Hospitals NHS Foundation Trust Hills Road Cambridge CB2 0QQ Website: Other Contact Details:

Cardiff
Haemophilia A	F8 intron 22 inversion (PCR) F8 intron 1 inversion (PCR) Detection of known F8 mutations (PCR & sequencing) Full F8 mutation screening (PCR & direct sequencing) F8 linkage analysis (SNP and microsatellite analysis) Carrier and prenatal diagnosis
Haemophilia B	Detection of known F9 mutations (PCR & sequencing) Full F9 mutation screening (PCR & direct sequencing) F9 linkage analysis (SNP and microsatellite analysis) Carrier and prenatal diagnosis
VWD	Detection of known VWF mutations (PCR & sequencing) Targeted screen for common type 2A, 2B, 2M and 2N mutations (PCR & sequencing) VWF linkage analysis (SNP and microsatellite analysis)
Contact	Email: Dr Derrick Bowen -Non-clinical Senior Lecturer and Honorary Consultant Clinical Scientist Other Contact Details:

Dublin
Haemophilia A	Haemophilia A mutation analysis Inversions 1 & 22 analysis Carrier determination
Haemophilia B	Haemophilia B mutation analysis Carrier determination
VWD	von Willebrand Disease Type 2 VWD mutation analysis
Contact	Email: Vince Jenkins Address: NCHCD, St James Hospital James' Street, Dublin Ireland Tel: +353 1 410 2141

Edinburgh
Haemophilia A	F8 gene intron 22 inversion (long PCR) F8 gene intron 1 inversion (PCR) Detection of known F8 gene mutation (PCR & sequencing) Full F8 gene mutation screening (PCR & direct sequencing) Gene linkage analysis Carrier and prenatal diagnosis
Haemophilia B	Detection of known F9 gene mutation (PCR & sequencing) Full F9 gene mutation screening (PCR & direct sequencing) Gene linkage analysis Carrier and prenatal diagnosis
VWD	Detection of known VWF mutation (PCR & sequencing) Targeted and full VWF gene mutation screening (PCR & direct sequencing)
Other Disorders	Fibrinogen
Contact	Email: Dr David Stirling Tel: 0131 242 6842 Fax: 0131 242 6812 Other Contact Details:

London Guy's & St Thomas' NHS Trust
Haemophilia A	F8 gene intron 22 inversion (Inverse PCR) F8 gene intron 1 inversion (PCR) Detection of known F8 gene mutation (PCR & sequencing) Full F8 gene mutation screening (dHPLC & sequencing) Gene linkage analysis Carrier and prenatal diagnosis
Haemophilia B	Detection of known F9 gene mutation (PCR & sequencing) Full F9 gene mutation screening (dHPLC & sequencing) Gene linkage analysis Carrier and prenatal diagnosis
VWD	Detection of known VWF gene mutation (PCR & sequencing) Targeted and full VWF gene mutation screening (dHPLC & direct sequencing) Gene linkage analysis (intron 40 VNTRs)
Other Disorders	Full mutation screening for : Factor V, VII, X & XI deficiencies Combined FV & FVIII deficiency – ERGIC-53 & LMAN1 genes Fibrinogenaemias ( a, b and g genes) Bernard-Soulier syndrome (Gp Ib a , Gp IX and Gp Ib b genes) Platelet-type pseudo VWD (Gp Ib a gene) Antithrombin deficiency Protein S deficiency Protein C deficiency Cystathionine b -Synthase (CBS) gene Glanzmann Thrombasthenia (ITGA2B & ITGB3 genes) Prothrombin Deficiency (F2) May-Hegglin anomaly (MYH9 gene). NB: Targeted analysis may be appropriate for some disorders / ethnic groups – discuss with laboratory. PND may be offered for most disorders if discussed in advance.
Contact	Email: Dr Mike Mitchell - Principal Clinical Scientist / Email: Jacqueline Cutler - Chief Biomedical Scientist Tel: 020 718 82798 /r 020 718 86817 Fax: 020 718 89797 or 0207 401 3125 Address: Molecular Genetics, Haemophilia Reference Centre Guy’s & St Thomas’ NHS Trust, St.Thomas’ Hospital London SE1 7EH

London Royal Free
Haemophilia A	F8 gene intron 22 inversion (Southern blot) F8 gene intron 1 inversion (PCR) Detection of known F8 gene mutation (PCR & sequencing) Full F8 gene mutation screening (PCR & direct sequencing) Gene linkage analysis Carrier and prenatal diagnosis
Haemophilia B	Detection of known F9 gene mutation (PCR & sequencing) Full F9 gene mutation screening (PCR & direct sequencing) Gene linkage analysis Carrier and prenatal diagnosis
VWD	Targeted screening for VWF gene mutations in type 2 VWD (PCR and sequencing)
Other Disorders	F11 mutation analysis (PCR and sequencing) Antithrombin (PCR and sequencing)
Contact	Email: Ms Gillian Mellars - Chief BMS Other Contact Details:

Manchester
Haemophilia A	F8 gene intron 22 inversion (long PCR) F8 gene intron 1 inversion (PCR) Detection of known F8 gene mutation (PCR & sequencing) Full F8 gene mutation screening (PCR & direct sequencing) Carrier and prenatal diagnosis
Haemophilia B	Detection of known F9 gene mutation (PCR & sequencing) Full F9 gene mutation screening (PCR and direct sequencing) Carrier and prenatal diagnosis
VWD	Detection of known VWF gene mutation (PCR & sequencing) Targeted (eg type 2N VWD, VWD Vicenza) and full VWF gene mutation screening (PCR & direct sequencing) Carrier and prenatal diagnosis in type 3 VWD
Other Disorders	FVII, FXI mutation analysis
Contact	Email: Dr Anthony Cumming - Consultant Clinical Scientist Email: Dr Steve Keeney - Principal Clinical Scientist Other Contact Details:

Newcastle
Haemophilia A	F8 gene intron 22 inversion (long PCR) F8 gene intron 1 inversion (PCR) Full F8 gene mutation analysis Detection of known F8 gene mutation (PCR & sequencing) Carrier analysis (by inversion analysis, sequencing Dosage analysis using MLPA for partial or complete gene deletions or duplications Gene linkage analysis Prenatal diagnosis
Haemophilia B	Detection of known F9 gene mutation (PCR & sequencing) Carrier analysis and prenatal diagnosis
VWD	Genetic analysis of VWF gene exon 28 for types 2A, 2B and 2M VWD Sequence analysis of exons 17-20, 24-27 for type 2N VWD
Contact	Email: Dr David Bourn Other Contact Details:

Nottingham
Haemophilia A	F8 gene intron 22 inversion (long PCR) F8 gene intron 1 inversion (PCR) Full F8 gene mutation analysis Detection of known F8 gene mutation (PCR & sequencing) Carrier analysis (by inversion analysis, sequencing MLPA for whole/partial F8 gene deletion or linkage analysis) Prenatal diagnosis
Haemophilia B	Full F9 gene mutation analysis Detection of known F9 gene mutation (PCR & sequencing) Carrier analysis and prenatal diagnosis
VWD	Mutation screening in type 2N VWD Genetic analysis of VWF gene exon 28 in types 2A, 2B, and 2M VWD
Other Disorders	Mutation detection in: fibrinogen disorders Factor XI deficiency, Factor X deficiency, Factor VII deficiency, Protein C deficiency Antithrombin deficiency Plasminogen deficiency Contact laboratory regarding prenatal diagnosis
Contact	Email: Dr Marian Hill - Principal Clinical Scientist Other Contact Details:

Oxford
Haemophilia A	F8 gene Intron 22 inversion (Inverse PCR) F8 gene Intron 1 inversion (PCR) Detection of F8 gene mutations (known and unknown) by direct sequencing Dosage analysis using MLPA for deletions and duplications Carrier and prenatal diagnosis
Haemophilia B	Detection of known and unknown F9 gene mutations by direct sequencing Carrier and prenatal diagnosis Dosage analysis using MPLA for deletions
VWD	Detection of known VWF gene mutations by direct sequencing Targeted VWF gene screening Type 2A, 2B, 2N and 2M by direct sequencing Gene linkage analysis (intron 40 VNTRs) Full VWF gene sequencing. Dosage analysis using MLPA for deletions
Other Disorders	V by direct sequencing FVII by direct sequencing FXIII by direct sequencing FX by direct sequencing Platelet-type pseudo VWD (GP1BA gene) Antithrombin deficiency (SERPINC1)
Contact	Email: Patricia Bignell - Principal Clinical Scientist Tel: 01865 857 093 Other Contact Details:

Sheffield SDGS
Haemophilia A	F8 gene intron 22 inversion (inverse PCR) F8 gene intron 1 inversion (PCR) Detection of known F8 gene mutation (PCR & sequencing) Full F8 gene mutation screening (DNA sequencing) Dosage analysis (MLPA) for partial/complete F8 gene deletions/ duplications Gene linkage analysis Carrier and prenatal diagnosis
Haemophilia B	Detection of known F9 gene mutation (PCR & sequencing) Full F9 gene mutation screening (PCR & sequencing) Dosage analysis (MLPA) for partial/complete F9 gene deletions/ duplications Gene linkage analysis Carrier and prenatal diagnosis
VWD	Genetic analysis of VWF gene exon 28 for types 2A, 2B and 2M VWD Genetic analysis of VWF gene exons 17-27 for type 2N VWD Full VWF gene mutation screening (PCR & direct sequencing of exons 2-52) Detection of known VWF gene mutation (PCR & sequencing) Dosage analysis (MLPA) for partial/complete VWF gene deletions/ duplications Gene linkage analysis (intron 40 STRs) Prenatal diagnosis for type 3 VWD Platelet-type pseudo VWD (GP1BA gene)
Other Disorders	FII by direct sequencing FOR NON g.20210G>A changes only (F2) FXI by direct sequencing (F11 gene) Antithrombin deficiency by direct sequencing (SERPINC1) Dosage analysis (MLPA) for partial/complete SERPINC1 gene deletions/duplications Protein C deficiency by direct sequencing (PROC) Dosage analysis (MLPA) for partial/complete PROS1 gene deletions/duplications Protein S deficiency by direct sequencing (PROS1) Dosage analysis (MLPA) for partial/complete PROS1 gene deletions/duplications Warfarin resistance analysis by DNA sequencing (VKORC1) Fanconi anaemia analysis by DNA sequencing of FANCA and FANCC Haemoglobinopathy genetic analysis
Contact	Email: Maria Panayi - Senior Clinical Scientist Email: Anne Goodeve - Principal Clinical Scientist Tel: 0114 271 7003 Fax: 0114 275 0629 Further Contact Details: