The main purpose of this Manual is to provide useful guidelines for the selection of pathology tests and to facilitate interpretation of results.
Contains a comprehensive listing of all genes from the Human Gene Nomenclature Committee (HGNC) database alongside laboratories and tests available in the country.
A manual for the process of macroscopic dissection in Anatomical Pathology laboratories.
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Full blood count, APTT, Prothrombin time, INR.
There is an isolated prolongation of the APTT in severe and moderate haemophilia; the test may not be sufficiently sensitive to detect those with mild haemophilia, with factor VIII or IX levels >30%.
All patients should initially be characterised and registered at a recognised Haemophilia Centre, with monitoring and on-going management organised in consultation with that Centre.
Coagulation factor levels - plasma (factor VIII) assay, von Willebrand factor Ag (vWf).
Normal vWf levels serve to differentiate mild haemophilia A from von Willebrand's disease.
Develops in approximately 10% of patients: Coagulation factor inhibitors; inhibitor quantitation (Bethesda units) against human and porcine factor VIII if the screening test is positive.
Carrier detection is based on patient and family history; coagulation testing and DNA analysis.
Coagulation factor levels - plasma (factor VIII) assay, von Willebrand factor Ag; the ratio of factor VIII:vWfAg is often reduced (<0.7).
Some carriers have completely normal coagulation results, and the possibility of a carrier state cannot be excluded on these assays. Molecular genetics testing increases the detection rate, but a definitive answer cannot always be obtained.
Carriers with factor VIII levels <50% are at risk of bleeding, ie, they are 'symptomatic carriers'.
Apparent symptomatic carriers need to be distinguished from the von Willebrand's disease Normandy variant.
Haemophilia B (Christmas disease)
Coagulation factor levels - plasma (factor IX) assay.
Develops in <5% of patients; Coagulation factor inhibitors; inhibitor quantitation if positive.
Coagulation factor levels - plasma (factor IX) assay. Carriers with factor IX levels <50% are at risk of bleeding ie, they are 'symptomatic carriers'.
Some carriers have normal results and the possibility of a carrier state cannot be excluded by factor IX assay.
Molecular genetics testing increases the detection rate, but a definitive answer cannot always be obtained.
Prenatal diagnosis (haemophilia A and B)
Molecular genetics testing if a DNA marker has previously been identified; chorionic villus biopsy at 8-12 weeks, amniocentesis in the second trimester.
Fetal blood sampling at 18 weeks may be satisfactory for haemophilia A (factor VIII assay) but is less reliable for haemophilia B, as fetal levels of factor IX are normally low.
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The RCPA is the leading organisation representing Pathologists and Senior Scientists in Australasia.
Its mission is to train and support pathologists and senior scientists and to improve the use of pathology testing to achieve better healthcare.
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