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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CF genotyping assay.
Molecular genetics (CVS or amniotic cells) for mutation identification, DNA polymorphisms in families without previously identified mutations.
Patients with initial positive results should be followed up with Chloride sweat and full Molecular genetics for cystic fibrosis.
See also Neonatal screen.
Symptomatic patients, including meconium ileus
Molecular genetics and Chloride sweat.
If there is a strong clinical suspicion, in a patient with normal sweat chloride and/or initially normal molecular genetics studies, rare mutations should be sought.
In infants presenting with meconium ileus, blood trypsinogen (neonatal screening) may be normal, so sweat electrolytes and molecular genetics must always be performed.
Chronic respiratory infection, especially
MCS sputum or cough swab especially for mucoid Pseudomonas aeruginosa, Burkholderia cepacia and Staphylococcus aureus.
Faecal fat microscopy, faecal elastase and Chymotrypsin faeces.
Glycated haemoglobin (HbA1c)
Serum/plasma hepatic transaminase profile, Albumin; INR
Infertility (male and female)
Congenital bilateral absence of the vas deferens. Semen analysis - fertility.
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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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