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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10-20 mL blood in EDTA tube.
PCR-based analysis to detect an expanded triplet repeat mutation in the regulatory region of the FMR-1 (fragile-site mental retardation) gene.
Investigation of familial or sporadic mental retardation without obvious cause, in conjunction with cytogenetics, to detect the fragile X mutation.
Prenatal diagnosis for the Fragile X syndrome is available - consult pathologist.
In normal individuals the triplet repeat region is less than 50 triplets long (150 nucleotides).
The identification of the characteristic expansion of the triplet repeat is diagnostic for the presence of the fragile X mutation.
Individuals with expansions of 60-200 triplets are unaffected but may transmit the disorder (premutation); those with expansions of approximately 200 triplets may be affected and/or transmit the disorder; males with expansions of >200 triplets will be affected.
The mothers of affected children are obligate carriers. Molecular genetic studies are indicated in other family members.
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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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