Factor IX Gene Mutation Screen

Molecular Haematology

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Description

Haemophilia B is an X-linked recessive blood coagulation disorder caused by functionally defective or reduced plasma levels of coagulation factor IX. FIX is a vitamin K dependant plasma protein that participates in the middle phase of blood coagulation. Screening the factor IX gene for the causative mutation in patients with haemophilia B using conformation sensitive gel electrophoresis and direct DNA sequencing.Determination of female carrier status by confirming/excluding the presence of a known familial mutation. The factor IX gene of females can also be screened for a mutation where no affected male relative is available.Prenatal diagnosis of haemophilia status of a male foetus using a previously determined mutation or informative polymorphic marker.Linkage analysis in families with haemophilia B can also be performed using factor IX intragenic polymorphisms (Hha I, Dde I, Mse I, Taq I 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 13 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.