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. The contact details for the centres are provided.

Belfast’s services & description

Haemophilia AF8 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 BDetection of known F9 gene mutation (PCR & sequencing)
Full F9 gene mutation screening (PCR & Sequencing)
Carrier and prenatal diagnosis
VWDFull screen of VWF coding sequence for unknown mutations
Partial screening of VWF gene for known mutations
Other DisordersMutation screening in inherited deficiency of coagulation factors V, VII, X, XI
Mutation screening in Hereditary Haemorrhagic Telangiectasia (HHT): ACVRL1 and Eng genes
Mutation screening in antithrombin deficiency: SERPINC1 gene
Mutation screening in Protein S deficiency: PROS1 gene
Mutation screening in inherited TTP: ADAMTS13 gene
ContactEmail: Dr Paul Winter

Birmingham

Haemophilia AF8 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
Dosage analysis (MLPA) for partial/complete F8 gene deletions/duplications
Detection of known F8 gene Mutations (PCR & Sequencing)
Haemophilia BDetection of known F9 gene mutation (PCR & sequencing)
Full F9 gene mutation screening by direct DNA sequencing for carrier and prenatal diagnosis
Dosage analysis (MLPA) for partial/complete F8 gene deletions/ duplications
VWDFull VWF gene mutation screening by direct DNA sequencing for types 1 and 3
Targeted sequencing for type 2A, 2B, 2M & 2N VWD
Dosage analysis (MLPA) for partial/complete VWF gene deletions/ duplications
Other DisordersMutation detection for FV, FVII, FX, FXI, Protein C and Protein S deficiencies
Platelet disorders:
Bernard-Soulier Syndrome, Glanzmann Thrombasthenia & Pseudo-VWD
F2 (prothrombin) deficiency
MYH9 related disorders
Combined F5F8 deficiency
ContactEmail: bimal.theophilus@bch.nhs.uk / andrea.guilliatt@bch.nhs.uk

Cambridge

Haemophilia AF8 gene intron 22 inversion (inverse PCR)
F8 gene intron 1 inversion (inverse 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
Carrier and prenatal diagnosis
Haemophilia BDetection of known F9 gene mutation (PCR and sequencing)
Full F9 gene mutation screening (DNA sequencing)
Dosage analysis (MLPA) for partial/complete F9 gene deletions/ duplications
Carrier and prenatal diagnosis
VWDTargeted screening for VWF gene mutations in type 2N VWD (PCR and sequencing)
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
Prenatal diagnosis for type 3 VWD
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)
Antithrombin deficiency by direct sequencing (SERPINC1)
Dosage analysis (MLPA) for partial/complete SERPINC1 gene deletions/duplications
ContactEmail: namir.alhasso@addenbrookes.nhs.uk
Email: geneticslaboratories@nhs.net
Tel: 01223 348 866
Fax: 01223 348 870
Address:
East Anglian Medical Genetics Service
Genetics Laboratories
Box 143
Level 6
Addenbrooke’s Treatment Centre
Cambridge University Hospitals
Hills Road
Cambridge
CB2 0QQ
Website

Cardiff

Haemophilia AF8 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 BDetection of known F9 mutations (PCR & sequencing)
Full F9 mutation screening (PCR & direct sequencing)
F9 linkage analysis (SNP and microsatellite analysis)
Carrier and prenatal diagnosis
VWDDetection 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)
ContactEmail: bowendj1@cardiff.ac.uk – Non-clinical Senior Lecturer and Honorary Consultant Clinical Scientist

Dublin

Haemophilia AHaemophilia A mutation analysis
F8 Inversions 1 & 22 analysis
Carrier determination
Haemophilia BHaemophilia B mutation analysis
F9 Carrier determination
Gene linkage analysis
VWDvon Willebrand Disease
Mutation screening by resequencing
VWF Type 2
VWD Targetted analysis of exons
Platelet-type
VWD
Mutations in GP1BA
Other DisordersMutation screening by resequencing
Antithrombin deficiency SERPINC1
Protein C deficiency PROC
Factor X deficiency F10
Factor VII deficiency F7
Factor XI deficiency F11
ContactEmail: CKeenan@stjames.ie
Address: NCHCD, St James Hospital
James’ Street, Dublin
Ireland
Tel: +353 1 410 2141

Edinburgh

Haemophilia AF8 gene intron 22 inversion (Inverse PCR)
F8 gene intron 1 inversion (PCR)
Detection of known F8 gene mutation (PCR and sequencing)
Full F8 gene mutation screening (PCR and sequencing)
F8 MLPA
Carrier and prenatal diagnosis (PCR and sequencing)
Haemophilia BDetection of known F9 gene mutation (PCR and sequencing)
Full F9 gene mutation screening (PCR and sequencing)
F9 MLPA
Carrier and prenatal diagnosis (PCR and sequencing)
VWDDetection of known VWF mutation (PCR and sequencing)
Full VWF gene mutation screening (PCR and sequencing)
VWF MLPA
Other DisordersFibrinogen mutation analysis (PCR & sequencing)
F5 mutation analysis (PCR and sequencing)
Combined F5F8D (PCR and sequencing)
F7 mutation analysis (PCR and sequencing)
F7 MLPA
F10 mutation analysis (PCR and sequencing)
F11 mutation analysis (PCR and sequencing)
F11 GAP-PCR
F13 mutation analysis (PCR and sequencing)
Glanzmann’s Thrombasthenia (PCR and sequencing)
MYH9 mutation analysis (PCR and sequencing)
MYH9 mutation analysis is limited to only exons which have had previously published mutations associated with MYH9-RD.
Exons 1, 10, 16, 21, 24, 25, 26, 30, 31, 32, 34, 37, 38 and 40 of the MYH9 gene.
Protein S (PROS1 gene) PCR, sequencing and MLPA
Protein C (PROC gene) PCR, sequencing and MLPA
Antithrombin (SERPINC1 gene) PCR, sequencing and MLPA
ContactEmail: davidstirling1@nhs.net
Tel: 0131 242 7144
Laboratory Contact:

Email: anne.white@luht.scot.nhs.uk
Tel: 0131 242 7144
Fax: 0131 242 6812

London Guy’s & St Thomas’ NHS Trust

Haemophilia AF8 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 BDetection 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 DisordersFull 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.

ContactEmail: Mike.Mitchell@gstt.nhs.uk- Principal Clinical Scientis
Email: Jacqueline.Cutler@gstt.nhs.uk- 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 AF8 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 BDetection of known F9 gene mutation (PCR & sequencing)
Full F9 gene mutation screening (PCR & direct sequencing)
Gene linkage analysis
Carrier and prenatal diagnosis
VWDTargeted screening for VWF gene mutations in type 2 VWD (PCR and sequencing)
Other DisordersF11 mutation analysis (PCR and sequencing)
Antithrombin (PCR and sequencing)
ContactEmail: g.mellars@medsch.ucl.ac.uk- Chief BMS or
bilal.jradeh@nhs.net – Clinical Scientist

Manchester

Haemophilia AF8 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, MLPA )
Carrier and prenatal diagnosis
Haemophilia BDetection of known F9 gene mutation (PCR & sequencing)
Full F9 gene mutation screening (PCR and direct sequencing)
Carrier and prenatal diagnosis
VWDDetection of known VWF gene mutation (PCR & sequencing)
Targeted VWF mutation screening (eg type 2N VWD, VWD Vicenza)
Full VWF gene mutation screening (PCR & direct sequencing, MLPA)
Carrier and prenatal diagnosis in type 3 VWD
Other DisordersFVII deficiency – F7 mutation analysis, family studies
FXI deficiency – F11 mutation analysis, family studies
ContactEmail: Tony.Cumming@cmft.nhs.uk – Consultant Clinical Scientist
Email: steve.keeney@cmft.nhs.uk – Principal Clinical Scientist

Newcastle

Haemophilia AF8 gene intron 22 inversion (inverse PCR)
F8 gene intron 1 inversion (inverse 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 BF9 sequence analysis
Detection of known F9 gene mutation(PCR and sequencing)
Carrier analysis and prenatal diagnosis
VWDGenetic 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
Detection of known mutations for types 2A, 2B, 2M and 2N
Other DisordersFull F11 gene mutation analysis and detection of known mutations
F11 whole gene deletion assay
Full F7 gene mutation analysis and detection of known mutations
ContactEmail: David.Bourn@nuth.nhs.uk

Nottingham

Haemophilia AF8 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 BFull 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 DisordersMutation 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

ContactEmail:marian.hill@nottingham.ac.uk – Principal Clinical Scientist

Oxford

Haemophilia AF8 gene Intron 22 inversion (Inverse PCR)
F8 gene Intron 1 inversion (Inverse PCR)
Detection of F8 gene mutations (known and unknown) by direct sequencing
Dosage analysis using MLPA for deletions and duplications
Carrier and prenatal diagnosis CVS/AMNIO/LATE AMNIO
Haemophilia BDetection of known and unknown F9 gene mutations by direct sequencing
Dosage analysis using MPLA for deletions
Carrier and prenatal diagnosis CVS/AMNIO/LATE AMNIO
VWDDetection of known VWF gene mutations by direct sequencing
Targeted VWF gene screening
Type 2A, 2B, 2N and 2M by direct sequencing
Full VWF gene sequencing
Dosage analysis using MLPA for deletions/duplications
Prenatal diagnosis CVS / AMNIO / LATE AMNIO
Other DisordersF5 by direct sequencing
F7 by direct sequencing
F13A by direct sequencing
F10 by direct sequencing
F11 by direct sequencing
Prenatal diagnosis CVS/AMNIO/LATE AMNIO
Platelet-type pseudo VWD (GP1BA gene)
Antithrombin deficiency (SERPINC1)by direct sequencing
Dosage analysis: F7, F10, F11 and SERPINC1
Fibrinogen genes, FGA, FGB, FGG by direct sequencing
MYH9 hotspots by direct sequencing

Research at the moment
NGS 24 GENE PANEL FOR:

Coagulation disorders:
Von Willebrand Disease (VWD): VWF gene
1. Clotting factor deficiencies:
Factors V, VII, VIII, IX, X, XI: F5, F7, F8, F9, F10, F11 genes
Factor XIII deficiency: F13A1, F13B genes
Abnormal Fibrinogen: FGA, FGB, FGG genes
Combined factor V/VIII deficiency: LMAN1, MCFD2 genes
2. Thrombotic disorders:
Abnormal Antithrombin : SERPINC gene
Abnormal Protein C: PROC gene
Abnormal Protein S: PROS1 gene
3. Platelet disorders:
Platelet glycoprotein binding disorders: GP1BA, GP1BB, GP9, ITGA2B, ITG3B genes
May-Hegglin anomaly: MYH9 gene
4. Congenital thrombotic thrombocytopenia purpura (TTP):
Abnormal von Willebrand factor-cleaving protease : ADAMTS13 gene

Other disorders:

Non-HFE genetic analysis, known mutations direct sequencing
NGS 16 GENE PANEL FOR IRON DISORDERS (see UKGTN website)
Dosage analysis for HFE, HFE2, HAMP, TFR2 and SLC40A1 genes

ContactEmail:Patricia.bignell@ouh.nhs.uk- Principal Clinical Scientist
Tel: 01865 572770

Sheffield SDGS

Haemophilia AF8 gene intron 22 inversion (long PCR)
F8 gene intron 1 inversion (PCR)
Detection of known F8 gene mutation (PCR & Sanger sequencing)
Full F8 gene mutation screening (next generation sequencing)
Dosage analysis (MLPA) for partial/complete F8 gene deletions/ duplications
Carrier and prenatal diagnosis
Haemophilia BDetection of known F9 gene mutation (PCR & Sanger sequencing)
Full F9 gene mutation screening (PCR & Sanger sequencing)
Dosage analysis (MLPA) for partial/complete F9 gene deletions/ duplications
Carrier and prenatal diagnosis
VWDGenetic analysis of VWF gene exon 28 for type 2B VWD
Genetic analysis of VWF gene exons 2-52 VWD types 1-3 by next generation sequencing
Detection of known VWF gene mutation (PCR & Sanger sequencing)
Dosage analysis (MLPA) for partial/complete VWF gene deletions/ duplications
Prenatal diagnosis for type 3 VWD
Platelet-type pseudo VWD (GP1BA gene Sanger sequencing)
Other DisordersNext Generation DNA sequencing panel
Thrombotic thrombocytopenia purpura, ADAMTS13
Factor V deficiency, F5
Factor XIII deficiency, F13A1, F13B
Fibrinogen disorders, FGA, FGB, FGG
Glanzmann Thrombasthenia, ITGA2B, ITGB3
Haemophilia A, F8
Haemophilia B, F9 (only currently analysed using NGS where the type of haemophilia in the family is not known)
MYH9 related disorders, MYH9
von Willebrand disease, VWF

Bernard-Soulier syndrome analysis by Sanger sequencing (GP1BA, GP1BB, GP9)
FXI by Sanger sequencing (F11)
Congenital amegakaryocytic thrombocytopenia analysis by Sanger sequencing (MPL)
Antithrombin deficiency by Sanger sequencing (SERPINC1)
Dosage analysis (MLPA) for partial/complete SERPINC1 gene deletions/duplications
Protein C deficiency by Sanger sequencing (PROC)
Dosage analysis (MLPA) for partial/complete PROC gene deletions/duplications
Protein S deficiency by Sanger sequencing (PROS1)
Dosage analysis (MLPA) for partial/complete PROS1 gene deletions/duplications
Fanconi anaemia analysis by next generation sequencing of panel of 16 genes
Dosage analysis (MLPA) for partial/complete FANCA gene deletions/duplications
Haemoglobinopathy genetic analysis HBA, HBB)

ContactEmail:Laura.Crookes@sch.nhs.uk- Senior Clinical Scientist
Email:Anne.Goodeve@sch.nhs.uk- Principal Clinical Scientist
Also contact: SDGS@sch.nhs.uk

Tel: 0114 271 7003
Fax: 0114 275 0629
Website: Sheffield Diagnostic Genetics Service