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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Key Information
Appropriate Tests
Molecular genetics testing is currently available for:
See Molecular genetics - genetic disorders.
Additional information about genetic tests is available in the RCPA Catalogue of Genetic Tests and Laboratories.
Charcot-Marie-Tooth disease
See Charcot-Marie-Tooth disease testing
Cystic fibrosis
Duchenne/Becker muscular dystrophy
See Muscular dystrophy.
Factor V Leiden mutation
See Thrombosis.
Familial polyposis coli
See Familial polyposis coli testing.
Fragile X syndrome
See Fragile X syndrome test.
Hereditary haemochromatosis
Haemoglobin variants
See Haemoglobinopathy, Haemolysis, Polycythaemia (erythrocytosis), Cyanosis.
Mitochondrial disorders
Haemophilia
Myotonic dystrophy
See Myotonia.
Sickle cell disease
See Sickle cell disorders.
Prothrombin mutation
Spinal muscular atrophy
Spino-bulbar muscular atrophy
Spino-cerebellar ataxia
See Ataxia.
Thalassaemia
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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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