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Updated: Mar 20, 2026
Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
Published on: August 17, 2022
Carrier detection and prenatal diagnosis by intron 22 inversion analysis of the factor VIII gene
C Ononye1, P V Jenkins1, E Goldman1
1Clinical Scientist, The Katherine Dormandy Haemophilia Centre, Department of Haematology, Royal Free Hospial and School of Medicine, London.MLS03, The Katherine Dormandy Haemophilia Centres, Department of Haematology, Royal Free Hospital and School of Medicine, London.Associate Specialist, The Katherine Dormany Haemophilia Centre, Department of Haematology of Royal Free Hospital and School of Medicine, London.Consultant, The Katherine Dormandy Haemophilia Centre, Department of Haematology, Royal Free Hospital and School of Medicine, London NW3 2QG.*
Abstract:
In approximately 50% of severe haemophilia A patients the mutation is present in the form of a large chromosomal disruption in the factor VIII gene; this disruption is described as an inversion. It results in the physical breakage and separation of exons 1-2 and exons 23-26 of the factor VIII gene.
