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 screen followed by Southern blot analysis to detect an expanded triplet repeat mutation in the myotonic dystrophy protein kinase gene (DMPK).
Used to detect the myotonic dystrophy type 1 (DM1) mutation in symptomatic or asymptomatic people.
Prenatal diagnosis for myotonic dystrophy is available if the mother has been shown to have an abnormal gene.
Additional information about genetic tests may be available in RCPA Catalogue of Genetic Tests and Laboratories.
Myotonic dystrophy type 1 is caused by a CTG expansion located in the 3' untranslated region of DMPK. In the normal population, the triplet repeat region is less than 30 triplets (90 nucleotides) in length.
More than 99% of patients with typical myotonic dystrophy have more than 50 triplets in this region.
The identification of the characteristic expansion of the triplet repeat is diagnostic for the presence of the myotonic dystrophy mutation.
The degree of expansion of the triplet region is correlated with the age of onset and severity of the disorder, but considerable variation exists.
Molecular genetic studies may be indicated in family members.
Ranum LPW et al. Am J Hum Genet. 2004; 74:793-804
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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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