Disorders of Coagulation


We offer a service for the identification of haemostatic genotypes by the molecular analysis of DNA. This includes the identification of antenatal carrier states and a prenatal diagnosis service by fetal DNA analysis. The request form for the Disorders of Coagulation is found here.​

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
Platelet disorders:
Platelet glycoprotein binding disorders: GP1BA, GP1BB, GP9, ITGA2B, ITG3B genes
May-Hegglin anomaly: MYH9 gene

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Last updated 23 Feb 2017.