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General Information

How to Use this site

The site is configured for use predominantly by clinicians seeking tests for genes or disorders. However, much of the site is also accessible by the public.

The various sections:

Genes

This section contains a list of all Human Gene Nonmenclature Committee approved genes. These can be searched for by keying in the first few letters of the gene name or alphabetically on the gene landing page.

Pathology Tests

The pathology test listing includes all of the tests available to the clinician that were provided by individual labs. These can be searched for by keying in the first few letters of the pathology test name or alphabetically on the pathology tests landing page.

This section includes single gene, gene panel, cytogenetic, microarray, genomic sequencing, SNP tests provided by laboratories that have been given permission to list their tests on this site.

Only Australasian laboratories are permitted to list their tests on this site. If you would like to list your pathology tests on this site please completed this form and email it as an attachment to genetictestslabs@rcpa.edu.au.

Disorders

The disorders are linked back to the Online Mendelian Inheritance in Man (OMIM) site.

Laboratories

This section lists laboratories and their contact details. Note that the costs for tests can be found by contacting the individual laboratories directly.

Laboratory users can use this section to edit their details.

General Information

This section contains general information about the site including how to use it and acknowledgements.

Search

Entering your search criteria in the top left search area will show results listed in the following order:- genes, pathology tests, disorders and laboratories containing the search criteria.

To filter the results you can use the search scope drop down box to search in that area only.
Pathology Tests can be filtered by State, Test Type, Test Accreditation Status and Context.

Genes, pathology tests, disorders and laboratories can be searched alphabetically below on each respective landing page.

Laboratory Login

Only Australasian laboratories are permitted to list their tests on this site. If you would like to list your pathology tests on this site please completed this form and email it as an attachment to genetictestslabs@rcpa.edu.au.

To log on please click on the red button on the right hand area and use your logon credentials and password.  Use this same drop down menu to update your lab details and pathology tests.

Site Statistics

No. of genes: The number of genes used in available tests on the site.

No. of labs: The number of laboratories with approval to provide tests on the site.

No. of tests: The number of tests provided by the approved laboratories.

External Links

Useful links to external organisations.

Contact

For website related queries please use the contact page. For queries regarding pricing or individual tests, please contact the individual laboratory responsible for the test.

Acknowledgement

The RCPA wishes to thank those members who gave their time to establishing this website.

Requesting and Interpretation of Tests

Requestors should be aware that testing for inherited genetic variants often raises significant medical, ethical, psychological, and legal issues. Testing should be done in accordance with national guidelines which address clinical issues, National Health and Medical Research Council (NHMRC) and laboratory requirements National Pathology Accreditation Advisory Council (NPAAC). Consultation with a genetic pathologist or senior scientist genetics laboratory, a specialist clinician, or a clinical genetics service may be warranted.

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.

What are gene names?

A variety of names have been used for genes and genetic loci. The Human Gene Nomenclature Committee provides a unique approved name for each human gene. This is the name used throughout this website. For convenience, some alternative non-standard names are shown but they are not used to link to other information or sites. The HGNC-approved name should be used in all test requests and reports to avoid confusion. Further information about genes, sequences, and nomenclature is provided by the National Centre for Biotechnology Information.

How do I apply to upload tests?

Approved Australasia and New Zealand laboratories can upload their tests on this website.

To apply for access please fill in this form and email the completed to genetictestslabs@rcpa.edu.au.