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.
Donate online now using the button below. All donations $2 and over are fully tax deductible. RCPA Foundation thanks you for your generous support. All funds raised will be allocated to the RCPA Foundation Pathology Education Outreach Fellowship.
Eve Propper Events and Sponsorship Manager Ph: +61 2 8356 5806 Fax: +61 2 8356 5828 Email: evep@rcpa.edu.au
Rachel Johnson Events and Grants Coordinator Ph: +61 2 8356 5852 Fax: +61 2 8356 5828 Email: rachelj@rcpa.edu.au
HMBS (also called )
hydroxymethylbilane synthase (OMIM 609806)
OMIM 620704 : Encephalopathy, porphyria-related OMIM 620711 : Leukoencephalopathy, porphyria-related OMIM 176000 : Porphyria, acute intermittent OMIM 176000 : Porphyria, acute intermittent, nonerythroid variant
Laboratory methods do not necessarily identify all of the clinically significant variants in a gene. The failure to identify a variant does not necessarily mean that the gene is normal. Variants in a gene may cause more than one disease, and the identification of a clinically significant variant does not necessarily indicate the specific disease that the patient or relatives may be at risk of developing. Conversely, the disease/s associated with a gene might also be caused by mutations in other genes, and the failure to identify a clinically significant variant in one gene does not necessarily alter the clinical diagnosis or risk for relatives.
20/01/2023
Page last updated:
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.
Royal College of Pathologists of Australasia © 2024 . Apart from any use that is permitted under the Copyright Act 1968 (Cth), and any permissions explicitly granted by Royal College of Pathologists of Australasia, all other rights are reserved.