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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Review clinical features especially associated disease; drug therapy; presence of myotonia, myasthenia or cardiomyopathy; history of red-brown urine (myoglobinuria).
See also Myoglobinuria.
Creatine kinase is usually elevated but the degree of elevation does not necessarily correlate with the severity of muscle weakness.
Full blood count, Blood film; C-Reactive protein
Extractable nuclear antigen Ab, Jo-1 Ab. Muscle biopsy (consult pathologist prior to procedure).
See under Adrenocortical insufficiency
Muscle wasting secondary to severe, systemic illness
Muscle biopsy, including chemical pathology studies, may be helpful (consult pathologist prior to procedure as special collection techniques are required for open biopsies).
Prenatal diagnosis (including Molecular genetic analysis) is available for some disorders.
See Glycogen storage diseases
Measure Potassium during episode of paralysis.
See Mitochondrial disorders
Muscle biopsy assists in identification of most types, but cannot specifically identify malignant hyperthermia.
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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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