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: A1AT, AAT
5 mL blood in plain tube.
5 mL blood in lithium heparin tube for genotyping, if indicated.
Immunoassay; IEF for phenotyping.
0.9-1.7 g/L (method dependent).
Detection of hereditary deficiency. Investigation of early onset emphysema; neonatal hepatitis; juvenile cirrhosis; panniculitis.
α-1 antitrypsin deficiency is associated with early onset emphysema, hepatitis and cirrhosis and with panniculitis. If deficiency is documented, genotyping should be done on proband and family. Levels of α-1 antitrypsin are increased in an acute phase response and this may mask a deficiency state; if there is a high clinical suspicion of α-1 antitrypsin deficiency, genotyping should be performed, regardless of the α-1 antitrypsin level.
Genetic variants with at least 100 alleles have been described; genotyping is currently available for two phenotypes associated with disease: S and Z.
Genotyping is currently the preferred first test but may be used to distinguish ZZ from Z null or SS from S null patients without the need for family studies.
Snyder MR et al. Diagnosis of alpha-1-antitrypsin deficiency: an algorithm of qualification, genotyping, and phenotyping. Clin Chem 2006; 12: 2236-2242
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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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