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 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 | Full screen of VWF coding sequence for unknown mutations Partial screening of VWF gene for known mutations |
| Other Disorders | Mutation 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 |
| Contact | Email: Dr Paul Winter |
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 Dosage analysis (MLPA) for partial/complete F8 gene deletions/duplications Detection of known F8 gene Mutations (PCR & Sequencing) |
| Haemophilia B | Detection 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 |
| VWD | Full 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 Disorders | Mutation 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 |
| Contact | Email: bimal.theophilus@bch.nhs.uk / andrea.guilliatt@bch.nhs.uk |
Cambridge
| Haemophilia A | F8 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 B | Detection 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 |
| VWD | Targeted 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 |
| Contact | Email: 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 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: bowendj1@cardiff.ac.uk – Non-clinical Senior Lecturer and Honorary Consultant Clinical Scientist |
Dublin
| Haemophilia A | Haemophilia A mutation analysis F8 Inversions 1 & 22 analysis Carrier determination |
| Haemophilia B | Haemophilia B mutation analysis F9 Carrier determination Gene linkage analysis |
| VWD | von Willebrand Disease Mutation screening by resequencing VWF Type 2 VWD Targetted analysis of exons |
| Platelet-type VWD | Mutations in GP1BA |
| Other Disorders | Mutation screening by resequencing Antithrombin deficiency SERPINC1 Protein C deficiency PROC Factor X deficiency F10 Factor VII deficiency F7 Factor XI deficiency F11 |
| Contact | Email: CKeenan@stjames.ie Address: NCHCD, St James Hospital James’ Street, Dublin Ireland Tel: +353 1 410 2141 |
Edinburgh
| Haemophilia A | F8 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 B | Detection 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) |
| VWD | Detection of known VWF mutation (PCR and sequencing) Full VWF gene mutation screening (PCR and sequencing) VWF MLPA |
| Other Disorders | Fibrinogen 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 |
| Contact | Email: davidstirling1@nhs.net Tel: 0131 242 7144 Laboratory Contact: Email: anne.white@luht.scot.nhs.uk |
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. |
| Contact | Email: 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 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: g.mellars@medsch.ucl.ac.uk- Chief BMS or bilal.jradeh@nhs.net – Clinical Scientist |
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, MLPA ) 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 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 Disorders | FVII deficiency – F7 mutation analysis, family studies FXI deficiency – F11 mutation analysis, family studies |
| Contact | Email: Tony.Cumming@cmft.nhs.uk – Consultant Clinical Scientist Email: steve.keeney@cmft.nhs.uk – Principal Clinical Scientist |
Newcastle
| Haemophilia A | F8 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 B | F9 sequence analysis Detection of known F9 gene mutation(PCR and 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 Detection of known mutations for types 2A, 2B, 2M and 2N |
| Other Disorders | Full F11 gene mutation analysis and detection of known mutations F11 whole gene deletion assay Full F7 gene mutation analysis and detection of known mutations |
| Contact | Email: David.Bourn@nuth.nhs.uk |
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:marian.hill@nottingham.ac.uk – Principal Clinical Scientist |
Oxford
| Haemophilia A | F8 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 B | Detection of known and unknown F9 gene mutations by direct sequencing Dosage analysis using MPLA for deletions Carrier and prenatal diagnosis CVS/AMNIO/LATE AMNIO |
| VWD | Detection 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 Disorders | F5 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 Coagulation disorders: Other disorders: Non-HFE genetic analysis, known mutations direct sequencing |
| Contact | Email:Patricia.bignell@ouh.nhs.uk- Principal Clinical Scientist Tel: 01865 572770 |
Sheffield SDGS
| Haemophilia A | F8 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 B | Detection 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 |
| VWD | Genetic 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 Disorders | Next 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) |
| Contact | Email: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 |