Clinical guideline details best laboratory practices in individuals with haemophilia A, highlighting advances in rapid carrier and prenatal genetic testing.
Haemophilia A is a common inherited bleeding disorder that has a well-understood pathophysiology. Our understanding of the molecular genetics of the disease has allowed the development of comprehensive carrier and prenatal diagnosis for this single gene defect. Continuing technological developments improve our ability to provide genetic analysis in a rapid and cost effective manner. This guideline aims to provide advice on current best laboratory practice when approaching genetic diagnosis of haemophilia A.
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Keeney et al. (2005) studied this question.
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