FOR MORE INFORMATION, ACCESS THE LINKS BELOW
Definitive diagnosis of Fabry disease in males requires biochemical testing to confirm absent or deficient α-galactosidase A activity.
The standard laboratory test is measurement of enzyme activity in leukocytes.1 Enzyme activity can also be measured in plasma but this method is less sensitive and should always be confirmed with a leukocyte assay.2
Dried blood spot (DBS) testing is available for Fabry disease and has made screening more feasible while demonstrating increased sensitivity and specificity compared to previous leukocyte assays.3
Biochemical testing is not routinely used to confirm diagnosis in females as female heterozygotes express variable levels of α-galactosidase A activity that may fall within the normal range.4 However, locally the National Referral Laboratory has demonstrated increased sensitivity using DBS testing in females and therefore this can be used as a screening test.3 There is no correlation between levels of α-galactosidase A activity and severity of disease or rate of progression in heterozygous women.5
Molecular analysis to confirm the presence of a disease-causing GLA gene mutation is required to confirm diagnosis in females, even in patients with a negative DBS result. The lower sensitivity of DBS testing in females compared with males is a consequence of random X-inactivation resulting normal α-galactosidase A activity levels in a proportion of female heterozygotes with Fabry disease. It does not reflect a problem with the test itself.6
FOR MORE INFORMATION, ACCESS THE LINKS BELOW
Select any filter and click on Apply to see results
You are now leaving https://sanofigenzymeonline.com.au and re-directing to which is not a Sanofi controlled website and/or database (“Third Party Site”) and may not be located in either Australia or New Zealand.
Use of and access to the Third Party Site is subject to the terms, limitations and conditions set by the Third Party Site producer subject to applicable laws, regulations and codes which may include those in Australia or New Zealand (“Codes”).
Sanofi Australia has not developed the Third Party Site, does not control what information is contained on the Third Party Site and, subject to any applicable Codes, makes no representation as to the accuracy or any other aspect of the information contained on the Third Party Site to the maximum extent permitted by any applicable Codes.
The information the reader is about to be referred to may not comply with the Australian regulatory requirements or New Zealand legislation or advertising codes. Further information relevant to the Australian and/or New Zealand environment is available from Sanofi or via the Product Information or Datasheet.
You are now leaving https://sanofigenzymeonline.com.au.
You are about to visit another Sanofi Australia site. This site is governed by Sanofi Australia.
This page describes the terms and conditions governing the use of this website (hereinafter the "Site").
By visiting the Site you unconditionally undertake to comply with these terms and conditions. As terms and conditions may be amended at any time, without prior notice, we advise you to consult them regularly.
The Site belongs to and is operated by sanofi-aventis australia pty ltd trading as Genzyme ABN 31 008 558 807, (hereinafter the “Company”) belonging to the Sanofi Group. The layout and each of the components, including trademarks, logos and domain names, appearing on the Site www.genzymeonline.com.au and associated/pointed sub-domains, are protected by current laws on intellectual property, and belong to the French parent company: SANOFI or its subsidiaries, or their use is the subject of an authorisation.
No component of the Site may be copied, reproduced, altered, edited, downloaded, denatured, transmitted or distributed in any way whatsoever, on any medium whatsoever, in whole or in part, without the prior written consent of the Company, except solely for use for press requirements conditional on compliance with intellectual property rights and any other property rights that are mentioned. Only copying for private use is authorised for your own personal, private, non-commercial use, on your personal computer.
The following statement should appear on any authorised copy of all or part of the content of the Site: "COPYRIGHT 2005-2015 sanofi-aventis australia pty ltd trading as Genzyme – ALL RIGHTS RESERVED".
Any authorised use of items composing or shown on the Site must not be denatured, changed or altered in any way whatsoever. The Company or its subsidiaries reserve the right to take legal action against any breach of its intellectual property rights.
Information, especially financial, published on the Site shall not be considered as an encouragement to invest. It should not under any circumstances be interpreted as prospecting or as a public offering, nor is it an offer to subscribe, buy or swap shares or other securities in the Company and/or its subsidiaries concerned. The Company draws your attention to the fact that financial information posted on the Site is regularly updated (if financial information is provided on-line).
The Site may offer opinions by experts consulted in a particular field in relation to the content of the Site or excerpts from press articles. Any such information solely represents the opinion of the expert consulted or the publication, and is not necessarily the opinion of the Sanofi Group. Any such experts are not employees of the Sanofi Group and do not receive any emoluments in exchange for the Company using their opinion. The Company is not responsible for the accuracy or completeness of any such information and opinions. Experts’ opinions reflect their own personal views and should never be interpreted as being the opinion or responsibility of the Company and/or SANOFI.
The Site also includes information on health, physical condition, the medical field and medical treatments solely for human use. Said information is published on the Site for information purposes only and is no substitute for the advice of your physician or pharmacist. The information should not be used under any circumstances to make a medical diagnosis of an illness or physical problem, or for prescribing or using drugs presented on the Site. The Site is not intended to be used to report health concerns, adverse events or product technical complaints, or to ask technical or medical questions regarding the Company’s products. In all instances you should refer to your physician or pharmacist.
The liability of the Company or of SANOFI shall not be incurred by a third party site that can be accessed via the Site. We do not have any way of controlling the content of such third party sites which remain entirely independent of the Company. Moreover, the existence of a link between the Site and a third party site does not under any circumstances mean that the Company approves the content of that site in any way whatsoever and in particular the use that may be made of it.
In addition, you are responsible for taking the precautions necessary to prevent any infection from the Site, in particular by one or more computer viruses, Trojan horses or any other "parasite".
External sites may include hypertext links to the Site. Any such links should not be created without the express prior consent of the Company. In any case, the Company is not in any way liable for the non-availability of such sites and the Company does not scrutinise, check or approve them and is not responsible for contents, advertising, products or other components available on or via those sites.
4.1 The Company will not disclose to third parties personal data about you that you may convey to it by e-mail. It will only be used with a view to providing you with an answer as effectively as possible. In accordance with local legislation Privacy Act 1988 (Cth), you have the right to access, alter and rectify personal data that concerns you. To do so, request as follows:
sanofi-aventis australia pty ltd trading as Genzyme
Talavera Corporate Centre Building D, 12-24 Talavera
Road Macquarie Park NSW 2113
4.2 The Site is intended to receive personal and health information from you. Consequently any information, whatever its from - document, data, graphic, question, suggestion, concept, comment or other - that you send us via the Site, will not under any circumstances be deemed confidential. Consequently, the act of sending it to us alone gives us the right to use it, reproduce it, publish it, alter it or disclose it within the Sanofi Group.
The Company strives to the best of its ability to ensure that information published on the Site is accurate and up-to-date. It reserves the right to correct content at any time, without prior notice. However, the Company cannot guarantee that the information available on the Site is accurate, correct, up-to-date or complete. Consequently, and except for property damage resulting from gross or intentional negligence by the Company, the latter declines any liability:
The components of the Site or of any other site are provided "as is" without any guarantee of any kind, whether implicit or explicit. The Company does not offer any implicit or explicit guarantee, relative, without limitation, to their market value or suitability for any given purpose.
You acknowledge (i) that it is technically impossible to provide the Site free from any defect and that the Company cannot undertake to do so; (ii) that defects may lead to the Site being temporarily unavailable; and that (iii) operation of the Site can be affected by events and/or matters that the Company does not control, such, for example, as means of transmission and communication between you and the Company and between the Company and other networks.
The Company and/or its suppliers may, at any time, alter or interrupt, temporarily or permanently, all or part of the Site to undertake maintenance and/or make improvements and/or changes to the Site. The Company is not responsible for any alteration, suspension or interruption of the Site.
The Site and its content are governed by the Laws of Australia, and any disputes relating thereto are subject to the jurisdiction of the courts of Australia.
sanofi-aventis australia pty ltd trading as Genzyme (ABN 31 008 558 807) of Talavera Corporate Centre, Building D, 12-24 Talavera Road, Macquarie Park NSW 2113
Head of Communications
Amazon Webservices AWS.Amazon.com
All images are courtesy of the sanofi-aventis australia pty ltd trading as Genzyme database. Where relevant, all images are reproduced with permission.
Updated: March 04, 2015
Genzyme is a leading Australian company and is part of the international Genzyme Group. Genzyme is in the business of researching, developing, manufacturing and marketing pharmaceutical and rare disease products. As a matter of conducting its routine business, Genzyme may collect the following types of personal information:
When you look at a Genzyme operated website, the Internet Service Provider of our parent company located in France makes a record of your visit and logs the following information for statistical purposes:
In general, Genzyme uses personal information for the following purposes to:
Genzyme’s interactions with you are also regulated by the Spam Act 2003 in Australia and the Unsolicited Electronic Messages Act 2007 in New Zealand. In compliance with these Acts, Genzyme will not send you a commercial electronic message to you unless permitted.
You can, in most cases, access the personal information Genzyme holds about you. If you wish to do so, please contact Genzyme as set out below.
Genzyme endeavours to ensure that the personal information it holds is accurate, complete and up-to-date. Please contact Genzyme if you believe that the information Genzyme holds about you requires changing or becomes out-of-date. Genzyme’s contact details are set out below.
If you believe that Genzyme has breached the Principles you may complain in writing to our Privacy Officer (see contact details below). Genzyme will respond within thirty (30) days and will use its best endeavour to resolve the issue.
If you are unsatisfied with Genzyme’s answer, you may take your complaint to the Office of the Australian Information Commissioner as detailed on http://www.oaic.gov.au/privacy/privacy-complaints or to the Office of the Privacy Commissioner for New Zealand as detailed on http://www.privacy.org.nz/your-privacy/how-to-complain/.
How to contact us for requests for Genzyme in Australia and New Zealand
Sanofi-aventis Australia Pty Ltd
Talavera Corporate Centre
Building D, 12-24 Talavera Road
Macquarie Park NSW 2113
This Policy is effective from 1 February, 2014