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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Keywords: Haemoglobin variants testing
5-20 mL blood in EDTA tube.
The diagnosis of haemoglobin variants, when appropriate after clinical assessment, Full blood count and Haemoglobin electrophoresis.
See also Sickle cell disorders.
Characterisation of specific haemoglobin variants eg, HbE, HbD, HbLepore. This testing is commonly used in two situations: (1) to explain an underlying haematologic change, which is unlikely to be a thalassaemia based on haematologic analysis; and (2) to confirm a haematologic change suspected of being a variant.
Prenatal diagnosis for at-risk pregnancies, in which DNA testing must be preceded by careful haematologic analysis to give some clue to the DNA laboratory as to which gene (alpha or beta) is likely to be involved.
Blain B. Haemoglobinopathy Diagnosis. 2001. Blackwell Science.
Ryan K et al. Significant haemoglobinopathies: guidelines for screening and diagnosis. BJH 2010: 149(1) 35-49
Globin Gene Server (http://globin.cse.psu.edu/globin/)
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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.
The annual scientific meeting for the RCPA which covers the scientific disciplines of Anatomical, Chemical, Forensic, Genetic, General, Haematology, Immunopathology and Microbiology.
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