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
Psychomotor development is initially normal but deteriorates during infancy or early childhood.
See also Psychomotor retardation
Non-genetic
SSPE
See under Measles
Cerebral tumour
Hypothyroidism
Heavy metal exposure/toxicity, especially
Autoimmune encephalitis
Genetic
Lysosomal storage diseases
Peroxisomal disorders
Mitochondrial disorders
Rett syndrome
Molecular genetics.
Carbohydrate deficient glycoprotein syndromes
Carbohydrate-deficient transferrin.
Trace elements disease, especially
Copper
Metabolic disease
Aminoacidurias, especially
See under Neonatal screening
Organic acidaemias, especially
Hyperammonaemia
Hypoglycaemia
Lesch-Nyhan syndrome
Urate, Urate urine.
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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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