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Free Diagnosis

One of the most important aspects of our work is providing free diagnostic testing for PWS to families in countries where this is currently not available locally. IPWSO has provided this service continuously since 2003 and to date, has funded the testing of over 566 samples received from 49 countries.


This IPWSO project is supported by

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Diagnosing Prader-Willi syndrome

If you suspect your patient has Prader-Willi syndrome, based on the clinical signs and symptoms, but are unable to access testing in your country, then you may be able to access free testing.

For the most up to date information on the clinical features of PWS and how to diagnose the syndrome, please refer to the following article. Driscoll DJ, Miller JL, Cassidy SB. Prader-Willi Syndrome. [Updated 2023 Mar 9]. In: Adam MP, Mirzaa GM, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023.

In particular, Figure 1 shows the comprehensive testing strategy to diagnose Prader-Willi syndrome and to establish the genetic mechanism.

There are two routes to access Free Diagnosis depending on where you are located.

Latin America

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Rest of the World (IPWSO)

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Supporting diagnosis in Latin America

IPWSO is delighted that the Instituto Fernandes Figueira (IFF) in Rio de Janeiro is now offering free diagnostic testing for PWS to all families in Brazil and throughout Latin America.

Supporting diagnosis in the rest of the world

IPWSO funds free diagnosis based at the B.I.R.D laboratory in Italy. To access the service please read the instructions lower down the page before submitting a Clinical Data Form to consulenze@birdfoundation.org.

When you have emailed the laboratory please check your spam folder in case their reply lands there. If you do not receive an acknowledgement after a week please contact us at IPWSO and we can check that the laboratory has received your message.

If you are unable to source filter paper locally please contact us at office@ipwso.org

The laboratory will wait to receive a few samples before processing them, so that the processing costs are more economical. Some samples may need to be tested more than once. Therefore please be patient when waiting for your results. However do check with the laboratory if you are concerned. Thank you.

We offer Free Diagnosis in countries where this is not available.
Download instructions in English, Spanish, French or Arabic below.

Test Method

The tests are performed on gDNA extracted from dried blood spots (DBS) on filter paper. All analyses are performed according to current EU guidelines maintaining very strict laboratory standards.

The system is low cost for the referring physician as we use a widely available sampling method (DBS on filter paper) and we keep the sample sending procedure as simple as possible (a regular letter sent through the mail).

The procedure required to send samples for analysis takes into account possible delays in the delivery, ease of collecting the biological sample and minimising the cost. The optimal solution determined was performing the tests on DNA extracted from dried blood spots on filter paper.

The testing method used at B.I.R.D. is MS-MPLA.

Introduction to B.I.R.D.

B.I.R.D. is an extraordinary foundation established by Mauro Baschirotto’s parents after he died from an undiagnosed rare disease. He was born in 1970 to parents, Guiseppe and Anna, who, for fifteen years struggled with not knowing what his illness was, not understanding why their son was not growing, why his immune system was not protecting him and not understanding the genetic disorder would shorten his young life. Mauro died when he was 16, of what is today known as Apeced (autoimmune) syndrome. Not wishing for any parent to have to live through the same issues as they had, Anna and Guiseppe raised funds to buy an old convent outside Vicenza, Italy, where they established a private laboratory for the free diagnosis of rare diseases and disorders and excellent facilities for research. By great good fortune, IPWSO’s President at that time, Giorgio Fornasier, knew the Baschirotto family and was extremely encouraged by their dream, believing that it would help families where a child with PWS had not been diagnosed, particularly in countries where the ability to do such sensitive and complex DNA diagnoses was not available.

In this beautiful old convent, complete with fresco’d chapel, are well-established and well-equipped laboratories able to offer speedy free diagnosis to rare disorders such as Prader-Willi syndrome, Apeced syndrome, Lesch Nyhan, Krabbe disease, and Metachromatic Leukodystrophy. Outpatient care is also offered along with rehabilitation programmes. This is especially important to the families as well as the patients, bringing together small groups at a time and letting them understand they are not alone in the world.

If you would like to make an enquiry about Free Diagnosis, please fill in the form below

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