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	FVIII gene intron 22 inversion (long PCR) FVIII gene intron 1 inversion (PCR) Detection of known FVIII gene mutation (PCR & sequencing) Full FVIII gene mutation screening (PCR & sequencing) Carrier and prenatal diagnosis
Haemophilia B	Detection of known FIX gene mutation (PCR & sequencing) Full Factor IX 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 Mutation screening in Bernard-Soulier Syndrome
Contact	Email: Dr Paul Winter Other Contact Details:

Birmingham
Haemophilia A	Full FVIII gene mutation screening by direct DNA sequencing for carrier and prenatal diagnosis
Haemophilia B	Detection of known FIX gene mutation (PCR & sequencing) Full FIX 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 & Protein C Platelet disorders: Bernard-Soulier Syndrome, Glanzmann Thrombasthenia & Pseudo-VWD
Contact	Email: Dr Said Enayat / Dr Bimal Theophilus / Dr Andrea Guilliatt Other Contact Details:

Cambridge
VWD	VWD type 2A, 2B, 2M and 2N mutation screening by sequencing
Other Disorders	Factor VII - by sequencing Factor X – by sequencing Factor XI - type I, II, III and IV screening by PCR and RE digest. If negative sequencing of gene Factor XIII – by sequencing. A subunit first; B subunit if negative. Platelet-type pseudo VWD - screening for the 3 reported mutations (Gly233Ser, Gly233Val, Met239Val) by sequencing Antithrombin - by sequencing Protein C - by sequencing Protein S - by sequencing
Contact	Email: Carolyn Cooper - Senior Clinical Scientist Other Contact Details:

Cardiff
Haemophilia A	F8 gene intron 22 inversion (PCR) F8 gene intron 1 inversion (PCR) Detection of known F8 gene mutation (PCR & sequencing) Full F8 gene mutation screening (prior arrangement required) (PCR & direct sequencing) F8 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) F9 Gene linkage analysis Carrier and prenatal diagnosis
VWD	Detection of known VWF gene mutation (PCR & sequencing) Targeted screen for common type 2A, 2B and 2N mutations (PCR & heteroduplex analysis) VWF Linkage analysis (SNPs and VNTRs)
Contact	Email: Dr Derrick Bowen 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	FVIII gene intron 22 inversion (long PCR) FVIII gene intron 1 inversion (PCR) Detection of known FVIII gene mutation (PCR & sequencing) Full FVIII gene mutation screening (PCR & direct sequencing) Gene linkage analysis Carrier and prenatal diagnosis
Haemophilia B	Detection of known FIX gene mutation (PCR & sequencing) Full FIX 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	Dr David Stirling Tel: 0131 242 6842 Fax: 0131 242 6812 Other Contact Details:

London Guy's & St Thomas' NHS Trust
Haemophilia A	FVIII gene intron 22 inversion (Inverse PCR) FVIII gene intron 1 inversion (PCR) Detection of known FVIII gene mutation (PCR & sequencing) Full FVIII gene mutation screening (dHPLC & sequencing) Gene linkage analysis Carrier and prenatal diagnosis
Haemophilia B	Detection of known FIX gene mutation (PCR & sequencing) Full FIX 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	Dr Mike Mitchell - Principal Clinical Scientist / 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	FVIII gene intron 22 inversion (Southern blot) FVIII gene intron 1 inversion (PCR) Detection of known FVIII gene mutation (PCR & sequencing) Full FVIII gene mutation screening (PCR & direct sequencing) Gene linkage analysis Carrier and prenatal diagnosis
Haemophilia B	Detection of known FIX gene mutation (PCR & sequencing) Full FIX gene mutation screening (PCR & direct sequencing) Gene linkage analysis Carrier and prenatal diagnosis
VWD	Screening for VWF gene mutations in types 2A, 2B,2M and 2N VWD
Other Disorders	FVII, FXI mutation analysis
Contact	Ms Gillian Mellars - Chief BMS Other Contact Details:

Manchester
Haemophilia A	FVIII gene intron 22 inversion (long PCR) FVIII gene intron 1 inversion (PCR) Detection of known FVIII gene mutation (PCR & sequencing) Full FVIII gene mutation screening (PCR & direct sequencing) Carrier and prenatal diagnosis
Haemophilia B	Detection of known FIX gene mutation (PCR & sequencing) Full FIX 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	Dr Anthony Cumming - Consultant Clinical Scientist Dr Steve Keeney - Principal Clinical Scientist Other Contact Details:

Newcastle
Haemophilia A	FVIII gene intron 22 inversion (Southern blot) Detection of known FVIII gene mutation (PCR & sequencing) Full FVIII gene mutation screening (dHPLC & sequencing) Gene linkage analysis Carrier and prenatal diagnosis
Contact	Dr Ann Curtis 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	Dr Marian Hill - Principal Clinical Scientist Other Contact Details:

Oxford
Haemophilia A	FVIII gene Intron 22 inversion (Inverse PCR) FVIII gene Intron 1 inversion (PCR) Detection of FVIII gene mutations (known and unknown) by direct sequencing Carrier and prenatal diagnosis
Haemophilia B	Detection of known and unknown FIX gene mutations by direct sequencing Carrier and prenatal diagnosis
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)
Other Disorders	FV by direct sequencing FVII by direct sequencing FXIII by direct sequencing FX by direct sequencing
Contact	Patricia Bignell - Principal Clinical Scientist Tel: 01865 857 093 Other Contact Details:

Sheffield
Haemophilia A	FVIII gene intron 22 inversion (long PCR) FVIII gene intron 1 inversion (PCR) Detection of known FVIII gene mutation (PCR & sequencing) Full FVIII gene mutation screening (DNA sequencing) Dosage analysis (MLPA) for partial/complete FVIII gene deletions Gene linkage analysis Carrier and prenatal diagnosis
Haemophilia B	Detection of known FIX gene mutation (PCR & sequencing) Full FIX gene mutation screening (PCR & sequencing) 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 18-25 for type 2N VWD Detection of known VWF gene mutation (PCR & sequencing) Partial VWF gene mutation screening (PCR & direct sequencing of exons 18-28) Gene linkage analysis (intron 40 STRs)
Other Disorders	F11, SERPINC1, PROC, PROS1, F2
Contact	Dr Anne Goodeve - Honorary Clinical Scientist & Reader in Molecular Medicine Dr Liz Allen - Clinical Scientist Dr Mandy Nesbitt Further Contact Details: