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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Advise the laboratory about current drug therapy.
Qualitative: chromatography or high voltage electrophoresis.
Varies with age and amino acid.
Suspected metabolic genetic disease with psychomotor regression (eg, Phenylketonuria, homocystinuria);
acute CNS or metabolic abnormality (eg, non-ketotic hyperglycinaemia, maple syrup urine disease);
bone disease (hypophosphatasia);
renal calculi (cystinuria); or
failure to thrive (Fanconi syndrome).
Clinical details are critical for relevant interpretation. Many non-specific abnormalities occur with non-genetic metabolic diseases. These may mimic the abnormalities of genetic diseases eg elevated tyrosine is found in all patients with hepatic failure, and urinary tyrosine cannot be used to diagnose type I tyrosinaemia. Amino acids are present in urine in excessive amounts:
(i) if the plasma concentration is excessive (eg, Phenylketonuria)
(ii) if renal tubular reabsorption is impaired (eg, Fanconi syndrome).
Edwards MA et al. Ann Clin Biochem 1988; 25: 129-141.
Shih VE. In: Blau N et al. Physician's guide to the laboratory diagnosis of metabolic diseases. London: Chapman and Hall Medical, 1996.
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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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