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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: 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: 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: 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: 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: 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 StirlingTel: 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 ScientistTel: 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 BMSOther 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 | 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 | 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 | 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: |