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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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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