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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Causes
Appropriate Tests
Characterised clinically by age of onset, gender, severity, pattern of muscle involvement and inheritance.
Creatine kinase - degree of elevation varies with the type (very high in Duchenne) and lessens as muscle destruction progresses. Muscle biopsy may assist in diagnosis and in the assessment of the stage of the disease. Additional information about genetic tests may be available in Catalogue of Genetic Tests and Laboratories.
Duchenne/Becker muscular dystrophy
X-linked disorders.
Molecular genetics - individual genetic disorders: not all Duchenne/Becker abnormalities can be identified with available techniques.
Most carriers of Duchenne dystrophy have increased CK levels and some are symptomatic.
Emery Dreifuss
X-linked disorder - Molecular genetics - genetic disorders.
Myotonia
Autosomal dominant - Molecular genetics - genetic disorders.
Facioscapulohumeral
Autosomal dominant disorder.
Limb girdle
Autosomal recessive disorder.
Variable inheritance.
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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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