Factor VIII Genemutation Screen

Molecular Haematology

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Description

Haemophilia A is an X-linked bleeding disorder affecting 1in 5,000 men and results from a deficiency or abnormality in the procoagulant activity of FVIII. Factor VIII (FVIII) is a protein cofactor for the intrinsic activation of factor X by factor IXa in the presence of phospholipid and calcium ions.In plasma, FVIII circulates in a non-covalent complex with von Willebrand factor (VWF). The following tests are available: Determination of the presence of the FVIII gene inversion (responsible for approximately 45% of cases of severe haemophilia A) by Southern blot/long PCR analysis.Screening of the FVIII gene for the causative mutation in patients with haemophilia A using conformation sensitive gel electrophoresis and direct DNA sequencing.Prenatal diagnosis of haemophilia status of a male foetus using a previously determined mutation or informative polymorphic marker.Linkage analysis in families with haemophilia A can also be performed using FVIII intragenic polymorphisms (intron 13 and 22 dinucleotide repeats and BclI restriction fragment length polymorphism).

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Sample Type

10ml citrate or EDTA blood less than 48 hours old.

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Turnaround Time

Within 17 weeks

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Testing Frequency

As required�

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Please note: the above information is subject to change and we endeavour to keep this website up to date wherever necessary.