Diagnostic Resources – Genetic Testing:


Do you think you have a form of Limb Girdle Muscular Dystrophy?  It is very important for you to get a genetically confirmed LGMD diagnosis.   If your doctor tells you that you have an LGMD but doesn’t genetically confirm it, your diagnosis is incomplete.  Knowing the exact form of LGMD or sub-type is important as there are health benefits for confirming an LGMD sub-type through genetic testing.  Genetic testing can be performed with either a saliva or blood sample.

Knowing the exact form of LGMD or sub-type is important as there are health benefits for confirming an LGMD sub-type through genetic testing.  As an example, some treatments like steroids will help patients with one type of LGMD and hurt patients with another type of LGMD, some sub-types can experience complications with the heart, breathing, and/or with anesthesia… so knowing what type of LGMD that you suffer from will help you manage your health. Further, if you want to help researchers and physicians trying to find a cure for your disease by participating in clinical studies and trials, you will need genetic confirmation in order to participate.

INFORMATION ON GENETIC TESTING FOR LGMDs

ALDA - Free Automated LGMD Diagnostic Assistant

The Jain Foundation has developed ALDA (Automated LGMD Diagnostic Assistant), a free online tool to help guide physicians toward the most probable diagnosis. This tool predicts the most likely type(s) of LGMD a patient may have based on clinical presentation and laboratory findings.

If you are a patient interested in taking advantage of the LGMD subtyping diagnostic tool, please contact either your physician or the Jain Foundation to help guide you through the process. The Jain Foundation can be reached at 425-882-1492 or contact Sarah Shira. This email address is being protected from spambots. You need JavaScript enabled to view it.


Go to Site

Orphanet

You can also consult the ORPHANET portal in the DIAGNOSTIC LABORATORIES FOR RARE DISEASES section:   Go to Site

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